Ann Dermatol.  2009 May;21(2):154-158. 10.5021/ad.2009.21.2.154.

Osteoma Cutis as the Presenting Feature of Albright Hereditary Osteodystrophy Associated with Pseudopseudohypoparathyroidism

• Jeong KH
• Lew BL
• Sim WY

• KMID: 2219385
• DOI: http://doi.org/10.5021/ad.2009.21.2.154

Abstract

Primary osteoma cutis is characterized by the formation of normal bone tissue in the dermis or subcutis without any underlying tissue abnormality or pre-existing calcification. This illness is associated with Albright hereditary osteodystrophy (AHO), which is characterized by such physical features as a short stature, round face, obesity, brachydactyly and osteoma cutis. Pseudohypoparathyroidism (PHP) is an inherited metabolic disorder that's characterized by resistance to parathyroid hormone, and PHP is present in most AHO patients. An AHO phenotype without hormonal resistance is called pseudopseudohypoparathyroidism (PPHP). Osteoma cutis is less common in patients with PPHP than in patients with PHP. We present here a case of osteoma cutis as the cardinal manifestation of AHO associated with PPHP. Osteoma cutis is an important sign of AHO and its significance should not be overlooked, even if the patient has normal values on the serum biochemical tests.

Keyword

Albright hereditary osteodystrophy; Osteoma cutis; Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism

MeSH Terms

Alkenes
Bone and Bones
Bone Diseases, Metabolic
Brachydactyly
Dermis
Fibrous Dysplasia, Polyostotic
Humans
Obesity
Ossification, Heterotopic
Osteoma
Parathyroid Hormone
Phenotype
Pseudohypoparathyroidism
Pseudopseudohypoparathyroidism
Reference Values
Skin Diseases, Genetic
Alkenes
Bone Diseases, Metabolic
Fibrous Dysplasia, Polyostotic
Ossification, Heterotopic
Parathyroid Hormone
Skin Diseases, Genetic

Figure

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  Fig. 1 Photograph showing the round face (A), malocclusion of teeth (B), the shortened 4th and 5th fingers (C) and the shortened left 4th toe (D).

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  Fig. 2 Presence of skin-colored, hard nodules on the left sole (A) and right palm (B).

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  Fig. 3 Extraskeletal ossifications are seen on the left sole (A) and left 5th finger (B).

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  Fig. 4 Shortened right and left 4th and 5th metacarpal bones (A) and the shortened left 4th metatarsal bone (B).

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  Fig. 5 Small spicules to large masses of mature bone are found in the dermis (A: Lt. 5th finger, B: Lt. sole, ×40). The bony tissue is composed of osteocytes, osteoblasts, Haversian canals and condensed mesenchyme (C: Lt. sole, ×100).

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