BACKGROUND: The immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare genodermatosis associated with dermatitis, enteropathy, type 1 diabetes, thyroiditis, hemolytic anemia, and thrombocytopenia. IPEX results from mutations of FOXP3, a gene located on the X chromosome that encodes a DNA-binding protein required for development of regulatory T cells. If untreated, affected males die early in life from malabsorption and other complications. To our knowledge, this syndrome has never been described in the dermatology literature. OBSERVATIONS: We studied an 11-year-old boy with IPEX. Mutation analysis revealed a G-->A transition (1150G>A) in exon 11, resulting in a putative substitution of Ala-->Thr at residue 384, within the DNA-binding site. Histopathologic examination of an active skin lesion revealed psoriasiform dermatitis. The lesions improved with clobetasol ointment. The patient also displayed alopecia universalis, which had been present since age 18 months, accompanied by longitudinal ridging of the nails. Lymphocyte challenge tests revealed a profound inability to synthesize interferon gamma (INF-gamma) and dysregulated production of other cytokines. CONCLUSIONS: IPEX is an often fatal genodermatosis associated with multiple autoimmune disorders. Cutaneous findings may include dermatitis, bullae, urticaria, alopecia universalis, and trachyonychia. Recognition of this life-threatening disorder is crucial for optimal treatment and genetic counseling.

Base Sequence↗

PubMed2004

American Academy of Dermatology Consensus Conference on the safe and optimal use of isotretinoin: summary and recommendations.

Explore the source record for details and available documents.

Acne Vulgaris↗

PubMed2004

Framework for improved communication: the Dermatology Lexicon Project.

A standardized dermatology vocabulary is central to our collective ability to gather clinical information consistently for patient care, to retrieve information for research or disease management, as well as to conduct outcomes analysis for quality improvement. The deficiencies of current classifications have been recognized by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) in their decision to fund the development of a standard complete reference terminology for dermatology. The Dermatology Lexicon will have a major impact both on clinical care and on dermatologic research. Accuracy in medical records and telemedicine communications will be improved. Reliable terminology will provide for more complete and consistent documentation and data aggregation and reporting. In order to create a useful, sustainable lexicon, involvement of the dermatology community is essential.

Dermatology↗

PubMed2004

Medical and dermatology dictionaries: an examination of unstructured definitions and a proposal for the future.

Medical dictionaries serve to describe and clarify the term set used by medical professionals. In this commentary, we analyze a representative set of skin disease definitions from 2 prominent medical dictionaries, Stedman's Medical Dictionary and Dorland's Illustrated Medical Dictionary. We find that there is an apparent lack of stylistic standards with regard to content and form. We advocate a new standard form for the definition of medical terminology, a standard to complement the easy-to-read yet unstructured style of the traditional dictionary entry. This new form offers a reproducible structure, paving the way for the development of a computer readable "dictionary" of medical terminology. Such a dictionary offers immediate update capability and a fundamental improvement in the ability to search for relationships between terms.

Dermatology↗

PubMed2004