Cutaneous features of SDR9C7 variants in eight individuals with autosomal recessive nonsyndromic epidermal differentiation disorders.
Caroline Echeandia-Francis, Angela J Luo, Xingyuan Jiang et al.
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Case in brief
Eight individuals with SDR9C7 variants and nonsyndromic epidermal differentiation disorders had scaling and erythema, commonly with fine scale, hyperlinear palms, and greater involvement of the extremities, particularly the lower legs. Hypohidrosis, impaired thermoregulation, recurrent dermatophyte skin and nail infections, and otological findings were also common; ectropion and scalp involvement were absent. One individual had plate-like scale and palmoplantar keratoderma. Emollients containing ammonium lactate or alpha-hydroxy acids improved scaling and dryness, while hydrocortisone reduced pruritus in some. One patient with severe disease required systemic retinoids.
What made this case unusual
The phenotype varied within this SDR9C7-associated disorder: one individual had plate-like scale and palmoplantar keratoderma, alongside the more common fine scaling and hyperlinear palms.
Diagnostic / clinical pearl
In SDR9C7-associated nonsyndromic epidermal differentiation disorders, assess for hypohidrosis, thermoregulatory impairment, dermatophyte infections, and otological findings as well as the characteristic scaling pattern.