Diffuse neonatal mastocytosis with possible Autosomal Dominant inheritance

Diffuse cutaneous/neonatal mastocytosis (DCM) is a very rare form of cutaneous mastocytosis with marked pruritus, blistering a{ter minor trauma or scratching and thickened skin with a peau d'orange appearance. DCM almost exclusively occurs in neonates and infants. It may persist into adult life. Most cases are sporadic. However autosomal dominant inheritance with familial occurrence has been recognized.

Diagnosis is mainly clinical and can be confirmed with histology. Treatment is unsatisfactory and directed mainly to alleviate the symptoms. Here we report a case of diffuse neonatal mastocytosis with possible autosomal dominant inheritance.

A seven months old child, a product of non consanguineous marriage presented with spontaneous blistering associated with intense pruritus. Examination revealed indurated leathery skin mainly on lower back, multiple erosions on face and scalp and few vesicles on trunk. His father also had been affected similarly in his early childhood. Diagnosis was made clinically and confirmed by skin biopsy.