Multiple miliary osteoma cutis of the face associated with Albright hereditary osteodystrophy in the setting of acne vulgaris: a case report
| Autor: | David Weinstein, Joseph V. Caravaglio, Rema Gupta |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
medicine.medical_specialty
Cutis Dermatology Short stature Acne Vulgaris medicine Humans Osteoma cutis Pseudohypoparathyroidism Aged business.industry Ossification Ossification Heterotopic Metabolic disorder Brachydactyly Skin Diseases Genetic General Medicine medicine.disease Albright hereditary osteodystrophy osteoma cutis pseudohypoparathyroidism pseudopseudohypoparathyroidism acne vulgaris cutaneous ossification case report Surgery Bone Diseases Metabolic Pseudopseudohypoparathyroidism Female medicine.symptom business Facial Dermatoses |
| Zdroj: | Caravaglio, Joseph V; Gupta, Rema; & Weinstein, David. (2017). Multiple miliary osteoma cutis of the face associated with Albright hereditary osteodystrophy in the setting of acne vulgaris: a case report. Dermatology Online Journal, 23(3). Retrieved from: http://www.escholarship.org/uc/item/7513d80h |
| ISSN: | 1087-2108 |
| Popis: | Osteoma cutis is a condition characterized by theformation of bone within the skin. Such aberrantossification of the skin and subcutaneous tissue isconsidered primary when it arises in the absence ofunderlying tissue damage or a preceding cutaneouslesion. Conversely, secondary osteoma cutis occurswhen skin ossification is the result of a pre-existingskin lesion, trauma, or inflammatory process [1,2].Although rare, primary osteoma cutis has beenassociated with a number of different geneticdisorders. Albright hereditary osteodystrophy (AHO),a condition first described in 1942 by Fuller Albright,is an autosomal dominant metabolic disorder causedby a mutation in the GNAS1 gene [3]. This disease isassociated with a variety of phenotypic traits includingcutaneous ossification, short stature, brachydactyly,obesity, and mental retardation. It should be notedthat brachydactyly is the most specific feature of AHO[4]. However, owing to variable expressivity individualsmay present only with a subset of these symptoms [5,6]. The cutaneous ossification observed in patientswith AHO may be seen in infancy or early childhoodand is sometimes the earliest presenting symptom.Nonetheless, because clinical features of AHO canbe seen in the absence of metabolic derangements(i.e. normal serum calcium, phosphorus, and PTHlevels) an early diagnosis is often missed and delayedfor many years. Herein, we present a case of miliaryosteoma cutis of the face in a 68 year-old woman withphenotypic features of AHO and laboratory studiesconsistent with type 1a PHP. |
| Databáze: | OpenAIRE |
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