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1.
Cutis ; 100(6): 423-426, 2017 Dec.
Article in English | MEDLINE | ID: mdl-29360891

ABSTRACT

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare, autosomal-dominant, cancer-predisposing, multisystem disorder. The clinical manifestations of NBCCS include multiple basal cell carcinomas (BCCs), odontogenic keratocysts, palmar or plantar pits, and calcification of the falx cerebri. We present a case of an 11-year-old boy with Fitzpatrick skin type V who presented with multiple facial lesions and a history of maxillary keratocysts. Skin biopsy was consistent with pigmented BCC of the right nasolabial fold. Further clinical workup revealed multiple pigmented BCCs, palmoplantar pits, and calcification of the tentorium. Genetic testing revealed a heterozygous mutation in the patched 1 gene, PTCH1, consistent with NBCCS. This case highlights the treatment considerations in pediatric cases of NBCCS in Fitzpatrick skin type V patients.


Subject(s)
Basal Cell Nevus Syndrome/diagnosis , Patched-1 Receptor/genetics , Skin Neoplasms/diagnosis , Basal Cell Nevus Syndrome/genetics , Biopsy , Child , Humans , Male , Mutation , Skin Neoplasms/genetics
2.
Cutis ; 93(3): 162-5, 2014 Mar.
Article in English | MEDLINE | ID: mdl-24738099

ABSTRACT

Microcystic adnexal carcinoma (MAC) is an uncommon, locally aggressive cutaneous neoplasm that usually presents as a slow-growing, asymptomatic lesion on the head or neck. Microcystic adnexal carcinoma frequently is misdiagnosed due to its histologic appearance on superficial biopsy specimens mimicking other follicular neoplasms. Herein, we highlight a case in which a slow-growing lesion was initially diagnosed as a trichoadenoma following superficial biopsy; however, after surgical excision the pathology revealed a locally aggressive MAC.


Subject(s)
Adenoma/pathology , Carcinoma, Skin Appendage/pathology , Carcinoma/pathology , Facial Neoplasms/pathology , Head and Neck Neoplasms/pathology , Skin Neoplasms/pathology , Sweat Gland Neoplasms/pathology , Aged, 80 and over , Biopsy , Diagnostic Errors , Female , Humans
4.
Dermatitis ; 21(5): 280-3, 2010.
Article in English | MEDLINE | ID: mdl-20920415

ABSTRACT

BACKGROUND: Medical meetings provide a forum for the open discussion and sharing of new information for attendees. Peer-reviewed publication provides greater distribution of vetted information. OBJECTIVE: The aim of this study was to analyze the publication of presentations from annual American Contact Dermatitis Society meetings. METHODS: Abstracts presented at the 2000, 2003, and 2006 American Contact Dermatitis Society meetings were identified. By keywords and author names, PubMed was searched for published papers corresponding to the work presented at these annual meetings. Matches were confirmed by comparing the content of the abstracts with the fully published articles. RESULTS: Of 115 presented abstracts, 55% resulted in the publication of an article by November 2009; 5% of abstracts had been published prior to presentation. Time to publication was 0.25 to 6.0 years. Mean time to publication was 1.8 years. CONCLUSIONS: Over one-half of all American Contact Dermatitis Society presentations resulted in the publication of an original article. Most were published within 2 years. The great majority of abstracts were published in Dermatitis (formerly the American Journal of Contact Dermatitis).


Subject(s)
Abstracting and Indexing/statistics & numerical data , Congresses as Topic , Dermatitis, Contact , Publishing/statistics & numerical data , Societies, Medical , United States
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