Pediatric Dermatology

and Iris Lim Trinh3

University of Florida, College of Medicine, Gainesville, FL, USA

Private Practice:, Orlando, FL, USA

Pediatrician, Private Practice, Orlando, FL, USA


2.1 Neonatal Dermatology

Transient Neonatal Pustular Melanosis (Figure 2.1A)

  • Onset at birth; common in darkly pigmented infants

  • Presents with small pustules or residual hyperpigmented macules with collarette of scale

  • Smear of sterile pustule shows numerous neutrophils

  • Histology: subcorneal pustules with neutrophils

Erythema Toxicum Neonatorum

  • Onset typically 2448 hours after birth; occurs in half of all full term infants

  • Presents with blotchy erythematous macules, papules, pustules and wheals

  • Smear of sterile vesicle/pustule shows eosinophils

  • Histology: subcorneal pustules with eosinophils associated with pilosebaceous unit

Neonatal Cephalic Pustulosis (Neonatal Acne) (Figure 2.1B)

  • Onset typically within first 30 days (vs. infantile acne between 1-12 months)

  • Presents with erythematous follicular comedones, papules and pustules on face; Malassezia spp. implicated

  • Histology: follicular pustules with neutrophils

Sclerema Neonatorum

  • Onset usually within first week of life; form of panniculitis in severely ill, premature infants; often fatal

  • Presents with diffuse woody hardening of skin; spares genitalia, palms and soles

  • Histology: needle-shaped clefts with necrotic adipocytes with little surrounding inflammation

Subcutaneous Fat Necrosis of the Newborn (Figure 2.1C)

  • Onset within first weeks of life; localized form of sclerema neonatorum in healthy infants

  • Presents with indurated subcutaneous nodules favoring cheeks, shoulders, back, buttocks and thighs

  • Associated with hypothermia, perinatal hypoxemia (from preeclampsia, meconium aspiration, etc), hypoglycemia

  • Calcification may occur; ± profound hypercalcemia with resolution so prudent to monitor calcium levels until 1 month after full resolution of lesions

  • Histology: panniculitis with prominent inflammatory infiltrate with needle-shaped clefts and fat necrosis


Figure 2.1:
A: Neonatal pustular melanosis*B: Neonatal cephalic pustulosis(Reprint from Boekhout T, Gueho-Kellerman E, Mayser P, Velegraki A. Malassezia and the skin. New York, NY: Springer; 2010.)C: Subcutaneous fat necrosis* *Reprint from Laxer RM, ed. The Hospital for Sick Children: Atlas of Pediatrics. Philadelphia, PA: Current Medicine, 2005.

Pedal Papules of Infancy

  • Soft, non-painful papules involving heels

Seborrheic Dermatitis

  • Onset typically 1 week after birth; lasts several months, mostly resolves by 1 year of age

  • Presents with ill-defined erythematous patches with waxy scale over scalp (‘cradle cap’), ± axillae and groin; lesions may appear psoriasiform

Miliaria Crystallina (MC) or Miliaria Rubra (MR)

  • Onset first few weeks of life; due to obstructed sweat glands and associated with ↑ temperature (ie. occlusion)

  • Presents with clear vesicles favoring head, neck and upper trunk (MC) or erythematous papules/vesicles grouped in intertriginous areas or occluded areas (MR)

Aplasia Cutis Congenita (ACC) (Figure 2.2A, B)

  • Onset before birth; localized defect in epidermis, dermis and/or fat; variable appearance, typically along midline

  • Presents with erosion, ulceration, scar or membranous defect (ovoid lesion covered by an epithelial membrane)

  • Hair collar sign (Figure 2.2C): ring of dark long hair encircling lesion; ± marker of underlying neural tube defect

  • Typically isolated abnormality, but may be associated with developmental anomalies or following disorders:

Bart syndrome

ACC of lower extremities + epidermolysis bullosa (DDEB)

Adams-Oliver syndrome

ACC on scalp (with skull ossification defect) + CMTC + limb defects (reductions, syndactyly) + cardiac abnormalities

Seitles syndrome

Bilateral temporal ACC + abnormal eyelashes, ‘leonine’ facies, upward-slanting eyebrows

Cutis Marmorata Telangiectatica Congenita (CMTC) (Figure 2.2D)

  • Onset at birth; typically improves with age

  • Presents with blanching reticulated vascular pattern on trunk/extremities with segmental distribution

  • Associated anomalies in ½ of patients (varicosities, nevus flammeus, macrocephaly, ulceration, hypoplasia and/or hypertrophy of soft tissue and bone)

Sucking Blister

  • Onset at birth or soon after; due to sucking

  • Presents with solitary blister (hand, wrist or lip)


Figure 2.2:
A: ACC, cicatricial(Courtesy of Dr. Michelle B. Bain)B: ACC, ulcerated(Reprint from Lipsker D. Clinical Examination and Differential Diagnosis of Skin Lesions. Paris, France: Springer France;2013.)C: Hair collar sign in ACC*D: CMTC in Adams-Oliver syndrome* *Reprint from RM Trüeb. The Difficult Hair Loss Patient. Zug, Switzerland: Springer; 2015.

Table 2-1:
Congenital Infections of the Newborn


Clinical Findings

Extracutaneous Findings

Important Points

Cytomegalovirus (CMV)

Petechiae, purpura, vesicles and ‘blueberry muffin’ lesions(Fig 2.3A)

Intrauterine growth retardation, chorioretinitis, intracranial calcification

⇒ Leading infectious cause of deafness and mental retardation

⇒ Typical findings on histology: enlarged endothelial cells with intranuclear inclusions

Blueberry muffin lesions: red-blue papules/nodules due to dermal erythropoiesis

Herpes Simplex Virus (HSV)

Localized or disseminated skin lesions (vesicles, erosions, scarring)

Encephalitis (predilection for temporal lobes), multi-organ failure, ocular infection

⇒ Majority HSV2, 85% acquired perinatally

50-75% mortality if left untreated


Blueberry muffin’ lesions

Cataracts, deafness, congenital heart disease, CNS findings (microcephaly, hydrocephaly), hepatosplenomegaly (HSM)

⇒ 50% chance of deafness

⇒ Severe birth defects if within first 16 weeks of pregnancy

⇒ Non-immune pregnant woman transfer the virus to the fetus


Blueberry muffin’ lesions favoring the trunk

Ocular abnormalities (chorioretinitis, blindness), CNS (deafness, mental retardation, seizures), thrombocytopenia, intracranial calcification


Cicatricial skin lesions

Ocular abnormalities (chorioretinitis, cataracts), cortical atrophy, psychomotor retardation, hypoplastic limbs

⇒ Greatest risk in first 20 weeks

⇒ 2% risk of embryopathy in women with infection within first 2 trimesters

Syphilis, Early Congenital (Fig 2.3B-D)

Syphilitic pemphigus, rhagades (radial furrows/fissures in perioral area, turn into parrot lines), papulosquamous macules/papules (like secondary syphilis)

Snuffles (rhinitis, secondary to ulcerated mucosa), enlarged lymph nodes and spleen, neurosyphilis

Be able to differentiate early and late congenital syphilis findings

⇒ Early congenital syphilis occurs from birth to 2 years of age

⇒ Only congenital syphilis may show bullous lesions

⇒ Papulosquamous lesions common in the diaper area

Syphilis, Late Congenital

Hutchinson’s teeth, Higoumenakis sign, mulberry molars, saddle nose, saber shins, parrot lines and furrows

Interstitial keratitis, gummas along long bones/skull, tabes dorsalis, generalized paresis

⇒ Includes permanent sequelae of early congenital signs

⇒ Higoumenakis sign: congenital thickening of the medial aspect of the clavicle

Table 2-2:
Differential Diagnosis for Diaper Dermatitis

Acrodermatitis Enteropathica(Fig 2.4AB)

Erythematous crusted patches/plaques with flaccid bullae in perineal, periorificial, and distal extremities; due to ↓ zinc level (also ↓ alkaline phosphatase as zinc-dependent); may occur in following settings:

1. Premature infants (poor absorption and ↑ requirement of zinc) when

 weaned off breast milk (which has adequate zinc level)

2. Inherited form (AR) manifests when weaned off breast milk

3. Healthy infants if low zinc level in maternal milk

4. Acquired form if malabsorption or inadequate nutrition

Allergic Contact Dermatitis

Rare in infants, ± related to topical preparations or foods

Atopic Dermatitis

Increased incidence of diaper dermatitis in atopic patients

Multiple Carboxylase DeficiencyBiotin Deficiency

Both resemble acrodermatitis enteropathica (periorificial dermatitis); treatment for both forms (listed below) is biotin

1. Neonatal form: AR, holocarboxylase synthetase deficiency, ± erythroderma with alopecia, fatal if not treated

2. Juvenile form: biotinidase deficiency, ± seizures, alopecia, hearing loss, developmental delay

Bullous Impetigo

Honey-colored crusts and flaccid bullae

Candidal Dermatitis (Fig 2.3E)

Bright red patches with pustules and satellite papules, ± intertriginous involvement (including scrotum), ± thrush

Congenital Syphilis (Fig 2.3B-D)

Reddish-brown papulosquamous eruption, may be erosive or bullous

Cystic Fibrosis

Resembles acrodermatitis enteropathica, also due to zinc deficiency ± pedal edema, failure to thrive, infections and malabsorption

Granuloma Gluteale Infantum

Red to violaceous granulomatous nodules over the vulva, perianal area, buttocks, ± scrotum; due to irritation, occlusion, candidal infection

Irritant Dermatitis

Poorly-demarcated erythematous plaques, spares inguinal folds

Kawasaki Disease

Tender erythema in perineal area which later desquamates

Langerhans Cell Histiocytosis (Fig 2.3F)

Yellow-brown crusted papules with purpura in seborrheic distribution; ± systemic involvement; Langerhans cells (CD1a +, S100+)


Clear vesicles or erythematous papules/pustules due to blocked eccrine ducts from heat or humidity in diaper area

Perianal Pseudo- verrucous Nodules

Erythematous nodules and papules in children with fecal incontinence

Perianal Strep

Bright red, well-demarcated perianal erythema and involving creases


Sharply-demarcated bright pink to red plaques involving inguinal creases, minimal scale; most common psoriatic presentation in infants


Erythematous nodules involving diaper area, ± genitalia

Seborrheic Dermatitis

Typical salmon-covered scaly patches and plaques involving the scalp, groin and other intertriginous areas

2.2 Childhood Infectious Diseases

Table 2-3:
Childhood Infections




Acute Hemorrhagic Edema of Infancy(Finkelstein Disease)

(Fig 2.5A)

Large circinate painful purpuric plaques involving face, ears, distal extremities → evolve into edematous targetoid lesions

Etiology: likely infectious(viral or bacterial)

Age: 6 months – 3 years; self-limited

Leukocytoclastic vasculitis seen on histology

May be hypersensitivity reaction to infection (medication/vaccination less likely)

Erythema Infectiosum (‘Slapped Cheek’ or Fifth Disease)

Bright red macular erythema over cheeks → lacy eruption mainly on the extremities

Etiology: parvovirus B19 (ssDNA) also causes hydrops fetalis; peaks in spring and winter

Age: school-age children; self-limited

Mild prodrome, 10% with arthralgias

Gianotti-Crosti Syndrome (Fig 2.4D and 2.5C)

Abrupt onset of skin-colored to pink-red edematous papules to cheeks, buttocks, extremities

Etiology: likely infectious (HBV, EBV)

Age: 6 months – 2 years; self-limited

May have low grade fever and lymphadenopathy

Hand-Foot-Mouth Disease (Fig 2.5D)

Elliptical grayish vesicles, pustules, and erosions on hands, feet, and buttocks

Oral: vesicles/erosions red base

Etiology: coxsackievirus A16 (enterovirus 71 less often)

Age: children < 10 years (± adults); self-limited

Fever, sore mouth, anorexia, abdominal pain; enteroviral infection may also cause myocarditis, pneumonia, meningoencephalitis

Henoch-Schönlein Purpura (HSP) (Fig 2.4C)

Purpuric macules and papules favoring lower extremities and buttocks

Etiology: possibly infectious (viral, strep)

Age: peaks at 4–7 years of age (± adults); self-limitedPresents 1–2 weeks after upper respiratory infection

Arthralgias, GI bleeding, abdominal pain, nephritis with hematuriaIgA vasculitis


Exanthem: often absent

Oral: painful gray vesicles on tonsillar, palate, buccal mucosa

Etiology: various enteroviruses (often coxsackie group A/B and echovirus)

Age: 3–10 years old; self-limited

Kawasaki Disease (Fig 2.5B) (Mucocutaneous Lymph Node Syndrome)

Polymorphous eruption (morbilliform, erythema multiforme-like or bullous); ± edema and erythema of distal extremities; can be generalized or localized (groin, LE)

Oral: red swollen or dry fissured lips; strawberry tongue; pharyngeal erythema

Etiology: unknown but likely infectious

Age: children < 5 years of age

Arthritis, abdominal pain, GI symptoms

Complications: cardiac aneurysm (in ¼ of untreated patients), myocarditis, pericarditis

Diagnosis: fever > 5 days + 4 out of 5 of following

(CRASH): conjunctivitis • rash • adenopathy

(mainly cervical) • swollen lips/strawberry tongue •

hand/foot change (edema/desquamation)

Measles(Rubeola or First Disease)

Erythematous macules/papules over forehead, hairline and behind the ears → spreads downward

Oral: Koplik spots (gray papules on buccal mucosa)

Etiology: measles virus (paramyxovirus)

Age: unvaccinated children

Prodrome: fever, cough, nasal congestion, rhinorrhea, conjunctivitis; rash appears after Koplik spots

Complications: encephalitis, otitis media, pneumonia, myocarditis, ± subacute sclerosing panencephalitis

Infectious Mononucleosis

Polymorphous: morbilliform (common), urticarial, petechial or erythema multiforme-like lesions

Of note, morbilliform eruption may occur after treatment with ampicillin

Etiology: infectious (EBV)

Age: children, young adults (15–25 years); self-limited

Fever, pharyngitis, fatigue, myalgias, headaches, hepatosplenomegaly, lymphadenopathy

Complications: splenic rupture, airway obstruction, hepatitis

Papular Purpuric Gloves and Socks Syndrome

(Fig 2.5F)

Erythema, edema, petechiae, and purpura on palms/soles (± extension to dorsal aspect), + burning and pruritus

Etiology: parvovirus B19

Age: children and young adults; self-limited

Mild prodromal symptoms, occurs mainly in young adults; peaks in spring

Roseola (Exanthem Subitum) (Sixth disease)

Circular to elliptical ‘rose red’ macules or papules involving trunk, occasionally surrounded by white halo

Etiology: human herpesvirus 6 (HHV6)

Age: 6 months – 3 years

Sudden-onset high fever; rash begins as fever subsides

Complications in healthy patient: mainly seizures

Rubella (German Measles) (Third Disease)

Erythematous macules and papules on face → spreads acrally, accompanied by tender lymphadenopathy (occipital, postauricular, cervical)

Etiology: togavirus (ssRNA)

Age: unvaccinated children/adults; self-limited

Usually mild prodrome

Complications: arthralgia/arthritis, hepatitis, myocarditis, pneumonia

Scarlet Fever (Second Disease)

Erythema of axilla, neck, chest → evolve to pink papules with erythematous background (sandpaper-like) → hand and foot desquamation (7–10 days later); Pastia’s lines (linear petechial streaks in body folds)

Oral: ‘red strawberry’ tongue

Etiology: group A β-hemolytic streptococci (erythrogenic toxin A, B, C)

Age: children (1–10 years old)

Extracutaneous: sore throat, headaches, chills, fever, nausea, abdominal pain, anorexia

Treatment: PCN 10–14 days (erythromycin in PCN- allergic pts)

Unilateral Laterothoracic Exanthem

Morbilliform or eczematous eruption in axilla and lateral trunk with unilateral dominance (± bilateral involvement)

Etiology: likely viral

Age: children (6 months – 10 years of age); self-limited

Varicella(Chickenpox) (Fig 2.5E)

Pruritic, erythematous macules/papules of scalp, face → spreads to trunk and extremities, evolves into vesicles with narrow red halo (‘dew drops on rose petal’), central crust or necrosis seen within lesions

Etiology: varicella zoster virus (VZV)

Age: children and adults; self-limited in healthy children

Complications in children: secondary bacterial infection

Adults with more severe presentation (pneumonia, 10–30% mortality if untreated)

All stages of development seen simultaneously


Figure 2.3:
A: Dermal hematopoiesis B: Congenital syphilis(Courtesy of Dr. Vandana Mehta) (Courtesy of Dr. Paul Getz)C: Congenital syphilis D: Congenital syphilis(Courtesy of Dr. Paul Getz) (Courtesy of Dr. Paul Getz)E: Candidiasis F: Langerhans cell histiocytosis(Courtesy of Dr. Paul Getz) (Reprint from Morgan MB, Smoller BR, Somach SC. Deadly Dermatologic Diseases. New York, NY: Springer; 2007.)


Figure 2.4:
A: Acrodermatitis enteropathica B: Acrodermatitis enteropathica(Courtesy of Dr. Michelle B. Bain) (Courtesy of Dr. Michelle B. Bain)C: Henoch Schonlein purpura D: Gianotti-Crosti syndrome(Reprint from Bonfazi E, (ed). Differential Diagnosis in (Reprint from Bonfazi E, (ed). Differential DiagnosisPediatric Dermatology. Milan, Italy: Springer; 2013.) in Pediatric Dermatology. Milan, Italy: Springer; 2013.)


Figure 2.5:
A: Acute hemorrhagic edema of infancy B: Kawasaki disease(Photograph courtesy of SpringerImages Database, (Reprint from Buka B, Uliasz A, Krishnamurthy K (eds). Buka’s Springer Publishing Company) emergencies in dermatology. New York, NY: Springer, 2013)C: Gianotti-Crosti syndrome D: Hand-foot-and-mouth disease(Courtesy of Dr. Michelle B. Bain) (Courtesy of Dr. Sima Jain)E: Varicella F: Papular purpuric gloves and socks syndrome(Reprint from Abdel-Halim AW. Passing (Reprint from Burgdorf WH, Plewig G, Wolff HH, Landthalerthe USMLE. New York, NY: Springer, 2009.) M, eds. Braun-Falco’s Dermatology. 3rd ed. Heidelberg: Springer; 2009)

2.3 Papulosquamous and Eczematous Dermatoses


  • Approximately 25% patients will have presentation before age 15

  • Presents as erythematous well-demarcated plaques with micaceous scale

  • Guttate psoriasis more common in children; presents with rain drop-like papules in an eruptive pattern; common triggers include strep infection, viral infection, stress and trauma

Pityriasis Lichenoides (Figure 2.6A)

  • Two diseases forming spectrum: pityriasis lichenoides et varioliformis acuta (PLEVA) and pityriasis lichenoides chronica (PLC)

  • PLEVA: abrupt onset of erythematous papules and vesicles with crusted or necrotic centers, often involuting within weeks to months; treat with oral erythromycin, phototherapy, and/or topical corticosteroid

  • PLC: reddish-brown papules with adherent scale, heals with dyschromia; more chronic course lasting months to years

Acropustulosis of Infancy (Figure 2.6B)

  • Onset from 6 months to 2 years; resolves by age 3

  • Presents with recurrent crops of pruritic pustules on palms, soles, distal extremities (may mimic scabies infection so prudent to perform mineral oil scraping)

  • Treatment: topical corticosteroid

Pityriasis Rubra Pilaris (PRP) (Figure 2.6C)

  • Three juvenile forms in addition to two adult forms (I/II)

Classic juvenile form (III)

Resembles classic adult form but with early onset (1st 2 years of life); most resolve within 3 years; 10% cases

Circumscribed juvenile form (IV)

Lesions on extensor surfaces and present in prepubertal years; 25% cases (50% persist into adulthood)

Atypical juvenile form (V)

Similar to type III + scleroderma-like changes of hands/feet, familial basis; presents in early childhood with unrelenting course; 5% cases


Figure 2.6:
A: PLEVA(Reprint from Tom WL (ed). Severe skin diseases in children: Beyond Topical Therapy. Heidelberg, Germany: Springer; 2013.)B: Acropustulosis of infancyC: Pityriasis rubra pilaris(Courtesy of Dr. Paul Getz)

Pityriasis Rosea (PR)

  • Self-limited papulosquamous eruption; likely viral pathogen (human herpesvirus 7, less likely HHV 6)

  • Presents with initial herald patch (precedes eruption by 1-2 weeks) followed by salmon-colored oval patches and plaques with inner scale along long axis of Langer’s lines of cleavage (‘Christmas tree’ pattern on posterior trunk); variants include inverse pattern (flexural accentuation) and papular PR (young children and darker-skinned patients)

Lichen Striatus (Figure 2.7A-B)

  • Self-limited, linear inflammatory condition in children

  • Presents with small erythematous scaly papules forming linear band → spreads down extremity or trunk and typically follows lines of Blaschko, ± nail involvement

  • Hypopigmentation may persist for months to years after lesions resolve and points to diagnosis

Keratosis Pilaris (KP)

  • Excessive keratinization causing horny follicular plugs on upper arms, thighs and cheeks; associated with atopy

KP Atrophicans (Figure 2.7C)

  • Group of disorders in children with faulty follicular keratinization followed by atrophy and scarring

    • KP atrophican faciei: erythema with follicular spiny papules of eyebrows, cheeks and scalp; involute and leave pitted atrophic scars; term ulerythema ophyrogenes if limited to lateral 1/3 of eyebrows, associated with Noonan syndrome

    • Atrophoderma vermiculata: pit-like atrophic scarring of follicles on face (‘honeycomb’ atrophy), associated with Rombo syndrome, Nicolau-Balus syndrome, and Down syndrome

Rombo syndrome: milia, atrophoderma vermiculata, acral cyanosis, trichoepitheliomas, multiple BCCS, hypotrichosis, alopecia

Nicolau-Balus syndrome: milia, atrophoderma vermiculata, eruptive generalized syringomas (DO NOT confuse with Blau syndrome, which has granulomatous arthritis, uveitis and skin granulomas)

Atopic Dermatitis (AD)

  • Occurs in 10–15% children, often presenting at 2-3 months of age; multifactorial pathogenesis but includes ↑ secretion of TH2 cytokines (IL-4, IL-5)

  • Triad of atopy: AD, allergic rhinitis, asthma

  • Few may have allergy to specific foods, which may exacerbate AD (eggs, milk, soybeans, fish, wheat, peanuts)

Atopic patients with ↓ amount of innate antimicrobial peptides: human β-defensins (HBD) and canthelicidins (LL37)


Figure 2.7:
A: Lichen striatus(Courtesy of Dr. Michelle B. Bain)B: Lichen striatus(Courtesy of Dr. Paul Getz)C: Atrophoderma vermiculata(Reprint from Jafari R, Tronnier M. Honigwabenartige Narben an den Wangen Welche Verdachtsdiagnose stellen Sie? pädiatrie: Kinder- und Jugendmedizin hautnah. 2015. © Urban & Vogel 2015)

  • Presents with eczematous lesions, xerosis and lichenification

  • Distribution varies with age

    • Infants: face, scalp, and extensors

    • Children: antecubital/popliteal fossae, neck, ankles

    • Adults: typically hands (chronic hand eczema)

  • Pityriasis alba: hypopigmented patches with minimal scale; may be only manifestation of AD (Figure 2.8A)

  • Complications: keratoconus (conical deformity of cornea), eyelid dermatitis, ↑ risk of infection (impetigo, eczema herpeticum, molluscum contagiosum)

  • Treatment: topical corticosteroid, topical calcineurin inhibitor, oral corticosteroid (short course), oral antihistamine, phototherapy; if recalcitrant and severe, consider oral immunosuppressant

Juvenile Plantar Dermatosis (Figure 2.8B)

  • Typically in children with an atopic diathesis; related to increased humidity from impermeable material in shoes

  • Presents with dry, scaly glazed patches with fissures involving forefoot plantar surface

  • Chronic but typically self-limited

2.4 Pigmented Lesions

Café Au Lait Macule (CALM)

  • Presents as a light to dark brown macule or patch

  • Single lesion in 10-20% of normal population; multiple lesions ± associated with different genodermatoses (McCune-Albright syndrome, neurofibromatosis)


  • Presents as brown macules with increased number of melanocytes; no relationship to sunlight

  • Multiple lentigines ± associated with following: (See Figure 2.10B)


Figure 2.8:
A: Pityriasis alba (Courtesy of Dr. Paul Getz)B: Juvenile plantar dermatosis (Reprint from Johansen JD, Frosch PJ, Lepoittevin J-P (eds). Contact Dermatitis. Heidelberg, Germany: Springer; 2011.)

Bannayan-Riley-Ruvalcaba syndrome

AD, PTEN gene, penile > vulvar lentigines, lipomas, hemangiomas

Carney complex (LAMB or NAME syndrome)

AD, PRKAR1A gene, psammomatous melanotic schwannomas, cardiac/cutaneous myxomas, blue nevi, endocrine overactivity

Laugier-Hunziker syndrome

Mucocutaneous lentigines, longitudinal melanonychia, genital melanosis

LEOPARD syndrome

AD, PTPN11 gene*, café-noir macules, EKG changes, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, growth retardation, deafness

Peutz-Jeghers syndrome

AD, STK11 gene (serine threonine kinase), mucocutaneous (oral/acral) lentigines, intestinal polyposis, ± intussusception, various malignancies

*PTPN11 gene mutations- also seen in Noonan syndrome

Ephelides (Freckles)

  • Present as light brown macules in sun-exposed areas; more prominent in children with fair skin and during summer time; onset typically within first 3 years of age

  • Can be a marker for UV-induced damage if acquired

  • Histology: normal number of melanocytes, increased pigment in keratinocytes

Congenital Nevus (CN) (Figure 2.9A)

  • Onset at birth or first year typically; 1–2% of population

  • Categorized as small (<1.5 cm), medium (1.5-20cm), and large (>20cm or 10% BSA)

  • Slight ↑ risk of melanoma (highest in large CNs); 3–12% of giant (large) CNs may develop melanoma (studies show varying percentages); axial nevi with greatest risk

  • If large nevus over scalp, rule out neurocutaneous melanosis with MRI

Neurocutaneous melanosis: ↑ intracranial pressure, leptomeningeal melanoma, spinal cord compression

Spitz Nevus (Epithelioid/Spindle Cell Nevus) (Figure 2.9B)

  • Presents as dome-shaped red-brown or tan-pink smooth surfaced papule; typically occurs within first 2 decades

  • Pigmented, congenital and agminated variants reported

  • Histology: Kamino bodies (PAS+ globules)

  • Characteristic starburst dermoscopic finding in pigmented Spitz nevi

Halo Nevus (Sutton’s Nevus)

  • Melanocytic nevus with surrounding hypopigmented halo in which central nevus either persists or involutes

  • Typically appears in adolescence; may appear in setting of vitiligo; prudent to rule out concomitant melanoma (rare) by performing full skin exam

Nevus Spilus (Speckled Lentiginous Nevus) (Figure 2.9C)

  • Presents as tan, regularly-bordered patch with darker macules within lesion

  • Melanoma rarely arises within nevus component

  • Associated with phakomatosis pigmentovascularis and pigmentokeratotica (latter with organoid nevus + hemiatrophy + neurologic defects)


  • 0.3-0.4% of melanomas in prepubertal children

  • ↑ Risk with fair skin, blue eyes, blonde/red hair, CDKN2A or p16 mutation, xeroderma pigmentosum, dysplastic nevus syndrome, large congenital nevus or neurocutaneous melanosis


Figure 2.9:
A: Congenital nevusB: Spitz nevus(Reprint from Laxer RM, ed. The Hospital for Sick Children: Atlas of Pediatrics. Philadelphia, PA: Current Medicine; 2005.)C: Nevus spilus(Courtesy of Dr. Paul Getz)

Becker’s Nevus (Becker’s Melanosis) (Figure 2.10A-B)

  • Acquired unilateral lesion found in adolescent males (second or third decade) typically on shoulder, upper chest or back

  • Presents as hyperpigmented hypertrichotic patch or plaque associated with underlying smooth muscle hamartoma (arrector pili)

  • Histology: ↑ melanin in epidermis, often smooth muscle hamartoma present in dermis

Blue Nevus (Figure 2.11A)

  • Congenital or acquired (typically early childhood)

  • Different types: common, cellular and combined

  • Multiple blue nevi associated with Carney complex (LAMB/NAME syndrome)

  • Histology: normal epidermis, many elongated dendritic melanocytes within dermis, large amounts of melanin often seen within melanocytes

Nevus of Ito (Nevus Fuscoceruleus Acromiodeltoideus) (Figure 2.10C)

  • Similar presentation to nevus of Ota but typically occurs in shoulder region (supraclavicular, scapular and deltoid)

Nevus of Ota (Nevus Fuscoceruleus Ophthalmomaxillaris, Oculodermal Melanocytosis) (Figure 2.10D, 2.11B)

  • Onset either near birth or during puberty

  • Most common in Asian population, mainly women

  • Presents as unilateral, blue-gray macules typically involving V1 and V2 distribution of trigeminal nerve

  • Most common extracutaneous sites: sclera > tympanum > nasal mucosa > pharynx > palate

Hori’s Nevus (Acquired Nevus of Ota-like Macules)

  • Onset in late adolescence, mainly in Asian women

  • Bilateral nevus of Ota-like macules of the zygomatic region; may be misdiagnosed as melasma

Congenital Dermal Melanocytosis (Mongolian Spot) (Figure 2.11C)

  • Common in infants with pigmented skin

  • Presents with blue-gray macules or patches typically over lumbosacral skin or buttocks

  • If extensive, consider phakomatosis pigmentovascularis

  • Histology: dendritic melanocytes situated in lower half of dermis, cells arranged parallel to epidermis


Figure 2.10:
A: Becker’s nevus*B: Becker’s nevus**C: Nevus of Ito**D: Nevus of Ota* *Reprint from Baykal C, Yazganoğlu KD (eds). Clinical Atlas of Skin Tumors. Heidelberg, Germany. Springer; 2014. **Reprint from Silverberg NB, Durán-McKinster C, Tay Y-K (eds). Pediatric Skin of color. New York, NY. Springer; 2015.


Figure 2.11:
A: Blue nevus B: Nevus of Ota(Courtesy of Dr. Paul Getz) (Reprint from Baykal C, Yazganoğlu KD (eds). Clinical Atlas of Skin Tumors. Heidelberg, Germany. Springer; 2014.)C: Dermal melanocytosis D: Linear and whorled nevoid hypermelanosis(Courtesy of Dr. Sima Jain) (Reprint from Silverberg NB, Durán-McKinster C, Tay Y-K. (eds). Pediatric Skin of Color. New York, NY. Springer; 2015.)

Linear and Whorled Nevoid Hypermelanosis (LWNH) (Figure 2.11D)

  • Appears within early infancy; progressive for 1-2 years before stabilization; persists indefinitely

  • Reticular hyperpigmented macules and patches in streaky configuration following lines of Blaschko

2.5 Hypopigmented Lesions

Table 2-4:
Hypopigmented/Depigmented Lesions in Children

Hypopigmented Lesions

Nevus depigmentosus (Fig 2.12A)

Congenital (at birth or within first few years), non-progressive hypopigmented macule or patch; most common site – trunk

Nevus anemicus (Fig 2.12B-C)

Hypopigmented patch due to persistent

vasoconstriction of papillary vessels; rubbing only reddens peripheral uninvolved skin; under diascopy, peripheral skin same as involved skin

Hypomelanosis of Ito (Pigmentary mosaicism)

Descriptive term (not diagnosis) of hypopigmentation along lines of Blaschko; ± extracutaneous involvement (includes CNS, musculoskeletal, dental, cardiac and ocular abnormalities); thought to be due to chromosomal mosaicism and sporadic mutations; also known as nevoid hypopigmentation ± systemic involvement

“Ash leaf” spots (Fig 2.12D)

Ovoid or ash leaf-shaped hypopigmented macules or patches at birth or early infancy; 3 or more lesions suggest tuberous sclerosis

Postinflammatory hypopigmentation

Hypopigmentation due to preceding inflammatory skin disorder

Depigmented Lesions (see Section 2.9 )


Leukoderma and white forelock (poliosis); depigmented patches with islands of normal to hyperpigmented macules within affected areas; typically involving forehead, central chest, abdomen, upper arms and lower legs

Waardenburg syndrome

White forelock and depigmented patches (similar to piebaldism); 4 genetic subtypes; heterochromia irides, dystopia canthorum, ± hearing loss


Depigmented macules and/or patches; may present during infantile period but not birth


Figure 2.12:
A: Nevus depigmentosus*B: Nevus anemicus*C: Nevus anemicus, after rubbing*D: “Ash leaf” spots** *Reprint from Bonifazi E (ed). Differential Diagnosis in Pediatric Dermatology. Milan, Italy: Springer; 2013.**Reprint from Silverberg NB, Durán-McKinster C, Tay Y-K (eds). Pediatric Skin of Color. New York, NY. Springer; 2015.

2.6 Bullous Diseases

Table 2-5:
Epidermolysis Bullosa

EB Subtype



Clinical Features


Split: Epidermal Basal Layer

Dowling-Meara (EBS Herpetiformis)



Onset at birth, grouped or herpetiform blisters (figurate), significant mucosal membrane and laryngeal/esophageal involvement (± hoarseness), nail dystrophy, confluent PPK, scarring, early death

EM: clumped tonofilaments in basal keratinocytes

Weber-Cockayne (Localized)



Onset typically childhood/adolescence, palmoplantar bullae/erosions, heal without scarring

Koebner (Generalized)



Generalized bullae at birth, PPK, nail dystrophy, mucosal erosions, heals without scarring

EBS Muscular Dystrophy



Widespread bullae at birth, muscular dystrophy, scarring, hair/nail/tooth/oral disease, early death

EBS Mottled Digmentation
Resembles localized and generalized EBS + reticulated hyperpigmentation over trunk


Split: Basement Membrane (Lamina Lucida)

Herlitz (EB Lethalis)

Premature termination codon


Laminin 5 (laminin-332)

Severe, widespread bullae, nonhealing exuberant granulation tissue (perioral, axillae, neck), enamel defects, absent nails, mucosal involvement (respiratory/GI tract with hoarseness), early death

Non-Herlitz (Generalized Atrophic Benign EB or GABEB)


Laminin 5 or BPAG2 (BP180)

Widespread bullae at birth, heal with atrophic scars, mild oral involvement, scarring alopecia, nail dystrophy, improves with time

JEB with Pyloric Atresia


α6β4 integrin

Severe congenital blistering, hydronephrosis, pyloric atresia, mucosal erosions


Split: Dermal (Sublamina Densa)

Hallopeau-Siemens Recessive DEB (RDEB-HS)

Premature termination codon


Type VII collagen

Severe widespread bullae at birth, heals with atrophic scarring (hands/feet → ‘mitten deformity’), milia, mucosal strictures, nail dystrophy, ↑skin, oral, esophageal SCCs

Non-Hallopeau-Siemens (RDEB-nHS)


Type VII collagen

Skin changes localized to acral bony prominences, Hallopeau-Siemens symptoms but less severe

Cockayne-Touraine (DDEB-CT)


Type VII collagen

Bullae mainly over extremities, heal with milia/atrophic scars/keloids, nail dystrophy

Pasini Variant (DDEB-P)


Type VII collagen

Similar to Cockayne subtype + albopapuloid lesions (white perifollicular papules, slowly enlarge)

Transient Bullous Dermolysis of the Newborn


Type VII collagen

Uncommon variant of dystrophic EB; benign, self-limited disease without scarring in newborn period


Figure 2.13:
A: EB simplex (Weber-Cockayne) B: Dominant dystrophic EB (Cockayne-Touraine)(Courtesy of Dr. Paul Getz) (Courtesy of Dr. Paul Getz)C: Recessive dystrophic EB D: Recessive dystrophic EBE: EB simplex (Dowling-Meara) F: EB simplex (Dowling-Meara)(Reprint from Laimer M et al. Epidermolysis (Reprint from Has C et al. Hereditare Blasen bildendebullosa hereditaria. Monatsschrift Kinderheilkunde Hauterkrankungen. Der Hautarzt. 2004:55(10);920-30.)Zeitschrift für Kinder und Jugendmedizin.2008:156(2);110-21.)

Chronic Bullous Disease of Childhood (Linear IgA Dermatosis of Childhood) (Figure 2.14A)

  • Blistering disorder with onset typically before age 5

  • Target antigen: 97 kDa Ag (LAD-1 or LABD97): cleaved ectodomain of BPAG2

  • Presents with annular and herpetiform bullae favoring extensor surfaces/groin (‘crown of jewels’ configuration)

  • Histology: subepidermal bullae with neutrophils in dermal papillae (similar to dermatitis herpetiformis)

  • Treat with dapsone or sulfapyridine

Neonatal Pemphigus

  • Presents in infants whose mothers have pemphigus vulgaris; due to passive transfer of maternal IgG to fetus

  • Self-limited; resolves within few weeks of birth

Hailey-Hailey Disease (Familial Benign Chronic Pemphigus) (Figure 2.14B, 2.15A)

  • AD, ATP2C1 gene (encodes Golgi-associated Ca2+ ATPase hSPCA1), results in abnormal intracellular calcium signaling; onset typically 2nd to 3rd decade

  • Presents with flaccid vesicles initially on erythematous base over intertriginous areas, ruptures easily and gives rise to macerated or crusted erosions

  • Histology: extensive epidermal acantholysis ‘dilapidated brick wall’

Think of ‘Hailey’s Comet’ to remember ATP2 C 1

2.7 Epidermal, Appendageal and Dermal Tumors

Epidermal Nevus (EN) (Figure 2.14C, 2.15B-D)

  • Hamartoma of epidermis and papillary dermis; onset typically at birth (± adolescence, rare in adulthood)

  • Presents as hyperpigmented papillomatous papules and plaques along lines of Blaschko, usually stops at midline

  • ILVEN (inflammatory linear verrucous epidermal nevus): erythematous scaly plaque along lines of Blaschko; not associated with any neurologic defects

  • Ichthyosis hystrix (generalized epidermal nevus): extensive bilateral systematized lesions

  • Nevus comedonicus (NC); if associated ipsilateral cataract and skeletal/CNS defects, think NC syndrome

  • Epidermal nevus syndrome (Schimmelpenning syndrome): sporadic; widespread EN, underlying CNS, ocular, cardiac and skeletal defects, biopsy to r/o EHK

Of note, if biopsy of EN shows epidermolytic hyperkeratosis, the patient may be at risk for offspring with full-blown EHK


Figure 2.14:
A: Chronic bullous disease of childhood(Courtesy of Dr. Michelle B. Bain)B: Hailey-Hailey disease (Courtesy of Dr. Paul Getz)C: Unilateral epidermal nevus(Reprint from Baykal C, Yazganoğlu KD (eds). Clinical Atlas of Skin Tumors. Heidelberg, Germany. Springer; 2014.)


Figure 2.15:
A: Hailey-Hailey disease with linear erosions (arrow)* B: Inflamed linear verrucous epidermal nevus (ILVEN)**C: Bilateral epidermal nevus*** D: ILVEN***E: Nevus sebaceous with trichoblastoma (arrow)*** F: Pilomatricoma ****Reprint from Lipsker D. Clinical Examination and Differential Diagnosis of Skin Lesions. Paris, France: Springer;2013.**Courtesy of Dr. Paul Getz ***Reprint from Baykal C, Yazganoğlu KD (eds). Clinical Atlas of Skin Tumors. Heidelberg, Germany. Springer; 2014.

Nevus Sebaceus (Figure 2.15E and 2.16A)

  • Presents as solitary yellow-orange slightly raised plaque typically on scalp or face; plaque typically thickens and becomes more verrucous or pebbly during childhood

  • Mutation in PTCH gene has been reported (deletion)

  • Benign tumors (trichoblastoma, syringocystadenoma papilliferum) and malignant tumors (BCC < 1% cases) can arise within lesion

Basal Cell Carcinoma

  • Seen in children with xeroderma pigmentosum (XP) and basal cell nevus syndrome (BCNS)

Squamous Cell Carcinoma

  • Seen in children with XP, dystrophic EB and albinism

Pilomatricoma (Calcifying Epithelioma of Malherbe) (Figure 2.15F, 2.16B)

  • Onset typically in childhood

  • Presents as solitary firm, skin-colored to faint blue papule or cyst on face or upper trunk

  • Histology: anucleate cornified cells (‘ghost’ or ‘shadow’ cells), calcification seen in late lesions

  • Multiple pilomatricomas may be associated with myotonic dystrophy (β−catenin defect)

Trichoepithelioma (Figure 2.16C)

  • Benign adnexal neoplasm usually appearing in childhood

  • Presents as skin-colored translucent papules (usually multiple) along the nasolabial folds or periorbital regions

  • Multiple lesions in Brooke-Spiegler syndrome (trichoepitheliomas, cylindromas, spiradenomas)

Angiofibroma (Fibrous Papule)

  • Skin-colored firm papule on face

  • Multiple lesions with onset in childhood associated with tuberous sclerosis (once known as adenoma sebaceum)

Neurofibroma (NF)

  • Presents as skin-colored, soft or rubbery papulonodule with positive ‘buttonhole’ sign (easily invaginated)

  • Commonly seen as solitary lesion; multiple lesions associated with neurofibromatosis

  • Plexiform NF considered pathognomonic for NF1, malignant transformation in 2-13%


Figure 2.16:
A: Nevus sebaceus with syringocystadenoma papilliferum (arrow)*B: Pilomatricoma*C: Trichoepitheliomas** *Reprint from Baykal C, Yazganoğlu KD (eds). Clinical Atlas of Skin Tumors. Heidelberg, Germany. Springer; 2014.**Courtesy of Dr. Paul Getz

Connective Tissue Nevus (Figure 2.17A-B)

  • Also known as shagreen patch (tuberous sclerosis) collagenoma, elastoma, or dermatofibrosis leticularis disseminata (latter in Buschke-Ollendorf syndrome)

  • Onset at birth or early childhood; likely hamartoma

  • Presents as firm, solitary or multiple skin-colored papules, nodules or plaques

Infantile Digital Fibroma (Figure 2.17C, 2.19A)

  • Onset within 1 year of age

  • Presents as multiple firm, smooth dome-shaped nodules on dorsolateral fingers/toes (spares thumb and great toe)

  • Benign with spontaneous regression within 2-3 years typically; high local recurrence rate with surgical excision

  • Histology: eosinophlic intracytoplasmic perinuclear inclusions within spindle cells

Infantile Myofibromatosis (Congenital Generalized Fibromatosis)

  • Rare, onset at birth or within first two years

  • Presents as one or more firm, rubbery skin-colored to purple papulonodules on head, neck or trunk

  • Two types: localized with no visceral involvement, good prognosis; visceral involvement with high mortality

Fibrous Hamartoma of Infancy

  • Onset at birth or within first year of life

  • Presents as painless, solitary skin-colored subcutaneous nodule typically involving axilla, shoulder or upper arm (less likely groin area)

  • Treat with local excision

Fibromatosis Colli

  • Infiltration of fibrous tissue involving the lower third of the sternocleidomastoid muscle at birth

  • Typically spontaneous remission within few months

Juvenile Hyaline Fibromatosis (Figure 2.17D, 2.18B)

  • Due to mutation in capillary morphogenesis protein 2

  • Multiple firm papules and nodules involving the face, extremities, and scalp; hypertrophic gums and disfigurement with flexion contractions


Figure 2.17:
A: Connective tissue nevus(Reprint from Laxer RM, ed. The Hospital for Sick Children: Atlas of Pediatrics. Philadelphia, PA: Current Medicine, 2005.)B: Connective tissue nevus(Courtesy of Dr. Paul Getz)C: Infantile digital fibroma(Reprint from Burgdorf WH, Plewig G, Wolff HH, Landthaler M, eds. Braun-Falco’s Dermatology. 3rd ed. Heidelberg: Springer; 2009.)D: Juvenile hyaline fibromatosis(Reprint from Baykal C, Yazganoğlu KD (eds). Clinical Atlas of Skin Tumors. Heidelberg, Germany. Springer; 2014.)

Juvenile Xanthogranuloma (JXG) (Figure 2.18A, 2.19B-C)

  • Non-Langerhans cell histiocytosis with Touton giant cells; onset typically within first year of life

  • Two types: micronodular (small, multiple) or macronodular (larger size, few in number)

  • Presents as single or multiple firm, pink-red papulonodules with yellow hue on head/neck > trunk/upper extremities

  • Regression typically seen in children (not in adults)

  • 0.5% with ocular involvement: (iris most common site): glaucoma, hyphema (may rarely result in blindness)

  • Association with NF1 and juvenile myelomonocytic leukemia (JMML)

Langerhans Cell Histiocytosis (LCH, Histocytosis X) (Figure 2.18C, 2.19D-F)

  • Clonal proliferative disease of Langerhans cells (comma-shaped nuclei, S100+, CD1a+, intracytoplasmic Birbeck granules seen on EM), four overlapping syndromes

  • Current classification by number of organ systems involved (single vs. multisystem), but historically grouped as follows:

Letterer-Siwe Disease (acute disseminated type)

– Multisystem involvement; onset typically before 2 years of age

– Small, pink papules, pustules, vesicles with scale/crust/petechiae in seborrheic distribution

Hand-Schuller-Christian disease (chronic multifocal)

– Onset between 2-6 years of age

– Typical triad: diabetes insipidus, bone lesions, exophthalmos

– Osteolytic bone lesions (cranium)

Eosinophilic Granuloma(chronic unifocal)

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Aug 7, 2017 | Posted by in Dermatology | Comments Off on Pediatric Dermatology
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