COPS syndrome in two Iranian sisters
Vali Anahita, Asilian Ali
Isfahan University of Medical science
Background:
COPS syndrome (calcinosis cutis,Osteoma cutis,Poikiliderma and skeletal abnormalities) is a rare syndrome that is marked by methaphysial bone changes similar to exuberant exuberant calcinosis cutis.
Report of the cases:
Case 1:
Here we report a 16 year-old girl, whose parents were first cousins, complained from multiple firm to hard papule and plaque with on the extensor surface of elbow, knee, buttocks, and both plantar surfaces nodules that were painful at pressure areas such as plantar surfaces. The firm lesions firstly appeared at three years old and gradually increased. Concurrently the skin mottled gradually. In addition to poikiloderma (prominently on the trunk and proximal of the limbs) and calcinosis,short stature and growth retardation, skeletal deformities such as malformed clavicula, wormian bone , wide fontanel and micrognatia of mandibule bony defects of ribs scalloping of anterior surface of vertebra were observed.Hypoplasia of maxilla and mandible resulted in crowding of teeth. Nails were spoon and racket shaped but hairs were normal.
Regular laboratory examinations, PTH and TFT were unremarkable.
Skin biopsy from buttock lesion demonstrated normal epidermis, intracellular calcification in dermal macrophages and round calcified extracellular deposits that extended from sunepidermis to deep dermis. The patient was diagnosed as COPS syndrome based on the distinctive clinical features, histologic finding of Calcinosis cutis and role out of other differential diagnosis e.g.Cleidocranial dysplasia and hereditary congenital poikiloderma.
Case 2:
A 19 year-old girl, the old sister of case 1, who had similar pictures to her sister plus complete absence of left clavicle and mildly elevated Parathormone (PTH)level.
Discussion:
COPS syndrome at first defined by Oranje AP et al in 1991, who proposed acronym of COPS that is classified with Rothman-Thomson syndrome or hereditary Poikiloderma congenital (MM:268400). Basic difference between two syndrome is exuberant calcinosis cutis that is a rare complication of Rothman-Thomson syndrome but one of the main features of COPS syndrome.
This lecture presented at Razi congress of Dermatology,
& published in abstract book, 2007, 200.
