CHILD - Syndrome

Last Updated: 2023-07-07

Author(s): Anzengruber F., Navarini A.

ICD11: LD24.04

  • Schimmelpenning-Feuerstein-Mims syndrome
  • Chondrodysplasia punctata Typ
  • Phakomatosis pigemntokeratotica
  • Syndrom des epidermalen Naevus
  • Syndrom des linearen Naevus sebaceus

Happle 1980

Genetic dysplasia syndrome. CHILD stands for Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects).

Only female children affected, as male embryos die early.

X-linked dominant inheritance of the gene NSDHL, which codes for NAD(P)H steroid dehydro-genase-like protein. There is an enzyme defect in cholesterol metabolism.

Strictly ipsilateral ichthyosiform, scaly skin lesions. There could also be (ipsilateral) abnormalities in other organs (heart, lung, kidney, brain).

Anamnesis

Clinic

Genetic analysis if necessary

  1. Noguera-Morel L, Hernández-Ostiz S, Casas-Fernández L, Hernández-Martín A, Rodríguez-Blanco I, Requena L, Hotz A, Fischer J, Torrelo A. CHILD syndrome with minimal limb abnormalities. J Eur Acad Dermatol Venereol. 2016 Dec;30(12):e201-e202.