Hereditary congenital hypopigmented and hyperpigmented macules (Westerhof syndrome) in two siblings

Abstract

S IR, In 1978 Westerhof et al. reported several members of a family with multiple hereditary congenital hypopigmented and hyperpigmented macules.1 Some affected members also showed retarded growth and mental deficiency. The authors suggested that this complex of symptoms represented a new neurocutaneous syndrome distinct from tuberous sclerosis complex (TSC). We report a 9-year-old boy who was born with multiple hypopigmented and hyperpigmented macules distributed over the trunk and extremities. The skin lesions were well defined, asymmetrical, and not confined to any dermatome (Fig. 1a). Mucous membranes were spared. Otherwise the patient was healthy. His only brother, aged 3 years, had similar congenital skin lesions (Fig. 1b). This younger child was diagnosed in utero with symmetrical retarded growth, and during his first 3 years of life has shown growth retardation at percentile < 3.