This is a surprisingly difficult diagnosis to make with certainty—no genetic markers, no characteristic scale, and absent granular layer in only a small minority…Since the stratum corneum does not retain water well becaue of its inadequate endogenous humectant production, emollients containing urea or alpha-hydroxy acids work best. LM

A significant number of these cases are caused by chromosomal deletions…Indeed, most of my recent new cases have been referred to me after prenatal fluorescent in situ hybridization (FISH) screening…Such cases need follow-up for contiguous gene syndromes…All should be checked for undescended testes and risk for testicular carcinoma is increased even in absence of undescended testes…Scaling can be quite variable, even for an individual…Boys with extensive cradle cap at birth can have little/no scale at 1 year of age and then develop characteristic extensor scaling at 4 to 5 years of age…Small, tightly adherent scales on flanks often give a wrinkled or pseudoatrophic appearance…Water is critical for these folks…Some with marked scale in the dry winter have little or none during humid summers…I like alphahydroxy acids for RXLI. LM

Although scale is the major manifestation of this disease, this is a disease of keratinocyte fragility…Friction is the cause of most blisters, and repeated shear at body folds causes accentuated scale in those locations. Blisters in the absence of friction suggest Staphylococcus aureus…For most of my patients Aquaphor is their favorite topical…Strong topical keratolytics remove too much stratum corneum and leave the skin surface denuded and raw…ltching is unexplained, but can be severe…Oral retinoids are very effective for many, not all…Pregnancy and skeletal toxicity are ongoing concerns of oral retinoid use…Odor is a problem, somewhat reduced by hypochlorite (0.05% or 1:100 Clorox) and salt (2-3%) baths. Watch out for contractures, especially of palms, secondary to pain and/or blisters…Early referral to F.I.R.S.T., the patient support. LM

Great variability in size and thickness of scales…Ectropion results from thick scale on the eyelids…I’ve had success using topical retinoids to reduce ectropion…but oral retinoids work better…Most patients try oral retinoids at one time or another, but retinoids unmask the underlying erythema and some patients would rather be scaly than red…Pregnancy and skeletal toxicity are ongoing concerns with retinoids…Educate patients about heat stroke and normal activity can be pursued…One of my patients ran crosscountry in college, another played lacrosse…Early F.I.R.S.T referral can be helpful. LM

These patients lose considerable water and energy through their skin…Children should be encouraged to eat and drink more than their unaffected sibs…I have a low threshold for recommending protein and calorie supplementation…Itching is usually mild; increased itching should prompt a search for chronic fungal infection. Most of my patients prefer emollients (Vaseline/aquaphor) to keratolytics/humectants. Early referral to the patient support group F.I.R.S.T. can be very helpful. LM

Is not the uniformly fatal disease once thought…Support in a good pediatric intensive care unit (PICU) seems most critical for survival past postnatal period…Early intervention with oral retinoids may facilitate shedding of thick natal scale, but there are well-documented cases of survival without retinoids…Barrier is extremely poor so these kids need emollients 4-5 times a day…Call F.I.R.S.T. for names of physicians with experience. LM

Pruritis in Sjögren-Larsson syndrome (SLS) is a distinguishing feature from other clinically similar diseases and it may respond to Zileuton therapy, which reduces leukotriene B4 levels…In some patients, the ichthyosis may wax and wane every few weeks…Photophobia is a common complaint…Retinal glistening white dots, if present in a patient with suspected SLS, is a reliable diagnostic sign, but its absence does not rule out SLS…Alopecia or nail dystrophy in not seen in this disease…The neurologic symptoms of SLS are not typically progressive, though spasticity symptoms may worsen with age if the patient does not get regular physical therapy…Anecdotal reports that the ichthyosis improves with administration of a low-fat diet supplemented with medium-chain fatty acids have not been reproduceable. WR

Signs and symptoms are very dependent on diet; therefore onset and severity are very variable…Neurologists usually make the diagnosis…Ichthyosis is usually mild and responsive to diet…These low vegetable/animal fat diets are tough to follow. LM

If an erythrodermic baby has hyperkeratosis in a linear or whorled pattern, look for epiphyseal stippling on x-ray…By several years of age, the epiphyseal stippling is usually gone and the erythema more limited…Severity of skin and skeletal disease varies greatly between individual adults, and there are no good early predictors yet…Follicular atrophoderma seems to be a nearly constant finding in adults. LM

Experienced clinicians made a connection long ago between the constellation of findings in CHILD and Conradi-Hünermann, so it was satisfying to learn that their gene defects share a common biochemical pathway…In CHILD syndrome, the skin lesions can look like inflammatory linear epidermal nevi…Excision can be curative for individuals with relatively narrow, nevoid bands. LM