Urbach-Wiethe syndrome.

To cite: Parida JR, Misra DP, Agarwal V. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015212443 DESCRIPTION A 14-year-old girl was referred for skin tightening in the fingers. She did not have Raynaud’s phenomenon, gastroesophageal reflux disease or other systemic symptoms. She had had a hoarse voice since birth and was developmentally normal. She was born of a second degree consanguineous marriage. Examination revealed pearly papules around the eyelids, face (figure 1) and fingers (figure 2), and hyperkeratotic plaque on the elbows (figure 3). Oral cavity examination revealed ankyloglossia (figure 4). Systemic examination was normal. Haemogram, and liver and renal function tests were within normal limits. The patient had a younger sibling (12 years old) with similar facial features (figure 5), elbow rash and oral cavity findings. CT of head of both siblings revealed bilateral basal ganglia calcification (figure 6). Both sisters were diagnosed to have lipoid proteinosis, or Urbach-Wiethe syndrome. Since they were asymptomatic, they were not given any medications and remained on follow-up. Papular lesions on the face, eyes and fingers merit consideration of congenital erythropoietic protoporphyria, lepromatous leprosy and amyloidosis. Absence of painful photosensitivity ruled out erythropoietic protoporphyria in this case; and absence of hypoanaesthetic skin lesions, paresthesias and joint pains ruled out leprosy. Onset in early childhood with family history, and absence of renal and gastrointestinal tract involvement, ruled out amyloidosis. 2 Hoarseness of voice with onset in early childhood merits a differential diagnosis of hypothyroidism, which can also be associated with coarse skin. However, hypothyroidism with onset from infancy is likely to be associated with mental retardation, and our patients had normal mental development. The symptom complex encountered in our patients regarding the papular lesions on the face and hands, and around the eyes, the hyperkeratotic plaque on the elbows, the ankyloglossia and hoarse voice, along with bilateral basal ganglia calcification, was characteristic of Urbach-Wiethe syndrome. Figure 1 Elder sibling—beaded pearly papules around eyelids and on face.