A boy born with multiple lesions of atrophoderma
Article first published online: 1 FEB 2010
© 2010 The Author(s)/Journal Compilation © 2010 Foundation Acta Pædiatrica
Volume 99, Issue 3, pages 460–463, March 2010
How to Cite
Pavone, P., Romantshik, O., Caltabiano, R., Micali, G., De Pasquale, R., Pavone, L. and Ruggieri, M. (2010), A boy born with multiple lesions of atrophoderma. Acta Paediatrica, 99: 460–463. doi: 10.1111/j.1651-2227.2009.01543.x
- Issue published online: 1 FEB 2010
- Article first published online: 1 FEB 2010
- Received 14 May 2009; revised 7 September 2009; accepted 15 September 2009.
- Pasini and Pierini
Aims: The Atrophodermas include a large group of disorders appearing as localized or widespread depressed skin areas and characterized by underlying dermal atrophy. The present study aims to report a peculiar form of previously unreported focal dermal atrophy.
Methods: We studied over a period of 5 years a boy who manifested, since birth, multiple hypopigmented cutaneous atrophic lesions of the atrophoderma type in a mosaic distribution over the body and the legs.
Results: This boy did no develop other cutaneous or systemic stigmata except for an idiopathic thrombocytopenic purpura (ITP) manifested at age 2 years. Full serum, metabolic and infective analyses; full ophthalmological examination; ultrasound examination of the heart and internal organs; skeletal x-rays; brain magnetic resonance imaging; and DNA analysis of the PORCN (Focal Dermal Hypoplasia - FDH) gene in this boy yielded normal results. Pathological analysis of multiple skin specimens from an affected area revealed slightly reduced dermal thickness; hyperpigmentation of the basal layer; homogenized and disarrayed collagen bundles; perivascular chronic infiltrates of lymphocytes and histiocytes; and normal skin appendages. Currently, the child is healthy; he has mildly improved skin status with less-evident skin depression throughout the lesion areas and no further complication has been recorded. The histological and clinical appearance of the skin lesions and the course were against any known disorder in the group of the atrophodermas.
Conclusions: The cutaneous lesions seen in this boy represent a possibly new congenital skin disorder characterized by multiple, benign areas of focal dermal atrophy in a mosaic distribution.