Osteoma Cutis Clinical Presentation
- Author: Kevaghn P Fair, DO; Chief Editor: Dirk M Elston, MD more...
History
- Patients may report having hard areas in the skin.
- A familial occurrence of Albright hereditary osteodystrophy may be present.
Physical
- The presentations of osteoma cutis can be highly variable, with clinical entities that are defined by the number, the form, and the location of the lesions.
- Osteomas may present as single or multiple, extremely hard nodules, plaques, or miliary tumors.[3]
- The face, the extremities, the scalp, the digits, and the subungual regions are the most commonly affected sites.
Causes
Osteoma cutis is a feature in several groups of patients.
- Albright hereditary osteodystrophy, which includes most patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism, is due to an autosomal dominant defect in the alpha subunit of intracellular guanyl nucleotide-binding protein (G protein).[4]
- The characteristic phenotype includes short stature, a round face, defective teeth, mental retardation, brachydactyly, and osteomas of the soft tissue and the skin.
- Tetany is often the presenting sign of pseudohypoparathyroidism, formerly called Albright hereditary osteodystrophy. In addition to skeletal system abnormalities, lesions of osteoma cutis are frequently observed.
- Single, small osteomas, arising later in life, sometimes with transepidermal elimination of bony fragments may be a cause.
- Multiple miliary osteomas of the face following acne, neurotic excoriation, or dermabrasion are possible causes.[5]
- Congenital plaquelike osteomatosis or limited dermal ossification is generally present from birth; the skin of the scalp or the extremities is often affected.
- Fibrodysplasia ossificans heteroplasia and fibrodysplasia ossificans progressiva are possible causes.
- Miscellaneous rare disorders with or without cartilaginous elements include osteomas of the distal extremities and multiple osteomas of childhood unrelated to Albright hereditary osteodystrophy.
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