Oral 3,CHILD syndrome with unusual cutaneous features

We report a case of a rare epidermal naevus genetic disorder which presented with unusual cutaneous features which to our knowledge have not previously been described. A 5-year-old girl of Indian origin was noted at birth to have a shortened left leg, left arm and left index finger. A rash was first noted at 3 months of age with a red scaling eruption in the left groin and medial thigh which resolved over a few weeks leaving a residual area of macular hyperpigmentation on the thigh area. The groin eruption has since recurred. A rash with a similar morphology appeared at the age of 6 months affecting the perianal area (predominantly left sided) and this rash has persisted. The fingernails of her left hand were noted to be dystrophic at the age of 18 months as were several toenails (bilateral but not universal). In addition, she has developed hyperkeratotic areas on both soles and at the left popliteal fossa. Several of these areas have a linear morphology. There is no history of consanguinity or any family history of similar skin problems. Genetic analysis revealed a mutation in the NSDHL gene, which is responsible for CHILD syndrome. Her mother did not exhibit this mutation.