Osteoma cutis is a condition characterized by the formation of bone within the skin. Such aberrant ossification of the skin and subcutaneous tissue is considered primary when it arises in the absence of underlying tissue damage or a preceding cutaneous lesion. Conversely, secondary osteoma cutis occurs when skin ossification is the result of a pre-existing skin lesion, trauma, or inflammatory process [1, 2].Although rare, primary osteoma cutis has been associated with a number of different genetic disorders. Albright hereditary osteodystrophy (AHO), a condition first described in 1942 by Fuller Albright, is an autosomal dominant metabolic disorder caused by a mutation in the GNAS1 gene [3]. This disease is associated with a variety of phenotypic traits including cutaneous ossification, short stature, brachydactyly, obesity, and mental retardation. It should be noted that brachydactyly is the most specific feature of AHO [4]. However, owing to variable expressivity individuals may present only with a subset of these symptoms [5, 6]. The cutaneous ossification observed in patients with AHO may be seen in infancy or early childhood and is sometimes the earliest presenting symptom. Nonetheless, because clinical features of AHO can be seen in the absence of metabolic derangements (i.e. normal serum calcium, phosphorus, and PTH levels) an early diagnosis is often missed and delayed for many years. Herein, we present a case of miliary osteoma cutis of the face in a 68 year-old woman with phenotypic features of AHO and laboratory studies consistent with type 1a PHP.
CITATION STYLE
Caravaglio, J. V., Gupta, R., & Weinstein, D. (2016). 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). https://doi.org/10.5070/d3233034293
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