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1.

Annular epidermolytic ichthyosis

A rare clinical variant of epidermolytic ichthyosis, with manifestations of blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. It has been reported in less than 10 families. The disease is caused by mutations in the KRT1 (12q11-q13) and KRT10 (17q21-q23) genes, encoding keratins 1 and 10 respectively. These mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton. Transmission is autosomal dominant. [from SNOMEDCT_US]

MedGen UID:
334410
Concept ID:
C1843463
Disease or Syndrome
2.

Flexural lichenification

Lichenification affecting primarily flexural areas of the skin. [from HPO]

MedGen UID:
870427
Concept ID:
C4024873
Disease or Syndrome

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