Familial urticaria pigmentosa associated with thrombocytosis as the initial symptom of systemic mastocytosis and Down's syndrome

• Published in: Journal of the European Academy of Dermatology and Venereology 2003-11, Vol.17 (6), p.718-722
• Main Authors: Jappe, U, Aumann, V, Mittler, U, Gollnick, H
• Format: Article
• Language: English
• Subjects: Biopsy, Needle; Child, Preschool; Down Syndrome - complications; Down Syndrome - diagnosis; Down Syndrome - genetics; Down's syndrome; familial urticaria pigmentosa; Genetic Predisposition to Disease; Humans; Immunohistochemistry; Male; mastocytosis; Mastocytosis - complications; Mastocytosis - diagnosis; Mastocytosis - genetics; Prognosis; Risk Assessment; Severity of Illness Index; Siblings; thrombocytosis; Thrombocytosis - complications; Thrombocytosis - diagnosis; Thrombocytosis - genetics; trisomy 21; Urticaria Pigmentosa - complications; Urticaria Pigmentosa - diagnosis; Urticaria Pigmentosa - genetics
• ISSN: 0926-9959; 1468-3083
• DOI: 10.1046/j.1468-3083.2003.00834.x

ABSTRACT Most cases of urticaria pigmentosa are confined to the skin, but visceral involvement and/or haematological abnormalities have been observed. It is still a matter of debate whether all forms of mastocytosis are true neoplasias or reactive hyperplasias. Familial inheritance of urticaria pigmentosa is rare. We report on a fraternal set with urticaria pigmentosa as part of a systemic mastocytosis. The first patient additionally revealed persistent thrombocytosis and splenomegaly. His brother developed urticaria pigmentosa, intermittent diarrhoea, hepatomegaly and asthma bronchiale associated with trisomy 21 (Down's syndrome). The association of mastocytosis with thrombocytosis has seldom been described. In our patient it preceded the development of systemic mastocytosis. The association with Down's syndrome has not been reported until now.