| Mucocutaneous neuromas: an underrecognized manifestation of PTEN hamartoma-tumor syndrome. | |
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MedLine Citation:
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PMID: 16702501 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: The spectrum of clinical findings associated with PTEN tumor suppressor gene germline mutations, referred to as PTEN hamartoma-tumor syndrome (PHTS), includes Cowden and Bannayan-Riley-Ruvalcaba syndromes. Although the skin is the ectodermal structure most often affected by these autosomal dominant genodermatoses, abnormalities of neural tissues are frequently observed. OBSERVATIONS: We describe a 5-year-old boy with macrocephaly, prominent corneal nerves, and progressive development of multiple painful, dome-shaped, translucent pink to skin-colored papules on the vermilion portion of the upper lip, fingers, palms, and shins. Histologic evaluation demonstrated dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath, findings diagnostic of a nonencapsulated neuroma. Genetic analysis revealed a novel heterozygous germline nonsense mutation in PTEN, predicted to result in a truncated PTEN protein. To our knowledge, this represents the first report of multiple neuromas as the sole mucocutaneous manifestation of PHTS. CONCLUSIONS: This article highlights neuromas as a cutaneous sign of PHTS, drawing attention to manifestations of PHTS in neural tissues of the skin, eye, gastrointestinal tract, and brain. Along with multiple endocrine neoplasia type 2B, PHTS should be considered in the differential diagnosis of multiple mucocutaneous neuromas, particularly those involving extrafacial sites. |
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Authors:
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Julie V Schaffer; Hideko Kamino; Agnieszka Witkiewicz; Jennifer M McNiff; Seth J Orlow |
Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Archives of dermatology Volume: 142 ISSN: 0003-987X ISO Abbreviation: Arch Dermatol Publication Date: 2006 May |
Date Detail:
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Created Date: 2006-05-16 Completed Date: 2006-05-26 Revised Date: 2008-03-17 |
Medline Journal Info:
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Nlm Unique ID: 0372433 Medline TA: Arch Dermatol Country: United States |
Other Details:
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Languages: eng Pagination: 625-32 Citation Subset: AIM; IM |
Affiliation:
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Ronald O. Perelman Department of Dermatology and Departments of Pathology and Pediatrics, New York University School of Medicine, New York, USA. schafj04@med.nyu.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Diagnosis, Differential Hamartoma Syndrome, Multiple / diagnosis*, pathology Hand Humans Leg Lip Male Mutation Neuroma / diagnosis*, pathology PTEN Phosphohydrolase / genetics Skin Neoplasms / diagnosis*, pathology |
| Chemical | |
Reg. No./Substance:
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EC 3.1.3.48/PTEN protein, human; EC 3.1.3.67/PTEN Phosphohydrolase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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