Familial cutaneous collagenoma: New affected family with prepubertal onset

Abstract

Two siblings presented with clinical and histopathological findings of familial cutaneous collagenoma which is a rare connective tissue nevus, inherited in an autosomal-dominant pattern. A 13-year-old girl had oval-round, soft, painless papules, 5-10 mm in size and a total of 9-10 on her abdomen and flanks. Skin biopsy demonstrated dense, coarse collagen fibers in the dermis and a decrease in elastic fibers. Doppler echocardiography indicated an atrioseptal defect of the secundum type. Her 9-year-old brother was also examined; four lesions were discovered on his back but he was otherwise normal. Our cases comprise the sixth affected family to be reported in the medical published work and all lesions had appeared prepubertally.

Connective tissue nevi in children: Institutional experience and review

“…Besides CTN, the main clinical differential diagnoses included smooth muscle hamartoma, fibromatosis, granuloma annulare, lichen amyloidosis, morphea, scar, anetoderma, and epidermal or sebaceous nevus. The most frequent subtypes found were nonfamilial collagenoma (NFC) (27) (Fig 1), shagreen patch (22), and nonfamilial elastoma (17). All cases labeled collagenoma were based on the histologic finding of a relative increased amount of hamartomatous collagen to a degree greater than elastic fibers (Fig 2).…”

“…[4][5][6][7][8][9][10] FCC was seen in only one case, unusual in that the multiple lesions in this young boy began early at the age of 4 years whereas it usually appears around puberty. [21][22][23][24][25] Absence of osteopoikilosis allows distinction from BOS. Our patient and his family had none of the reported associations of FCC with cardiomyopathy, hypogonadism, testicular failure, deafness, and Becker nevus that have been reported.…”

Papular Elastorrhexis: A Case and Differential Diagnosis

“…Due to similar histological changes, familial cutaneous collagenoma (FCC) is another disorder that needs to be ruled out. Although its clinical features also make it hard to differentiate from PE, it clearly differs from PE because it is inherited as an autosomal dominant trait16. Apart from connective tissue nevi mentioned so far, secondary scarring and anetoderma are disorders that should be taken into account when diagnosing PE.…”

A Case of Familial Cutaneous Collagenoma

“…There is no malignant potential and most lesions do not equire treatment. Surgical excision may occasionally be indicated for cosmetic reasons11.…”