Familial cutaneous collagenoma: genetic studies on a family*

Abstract

Familial cutaneous collagenoma is an inherited condition characterized by the presence of multiple dermal nodules symmetrically distributed on the trunk and upper arms. In this study, six patients, the proband, his four siblings and a niece, representing a kindred of fifty-two subjects, were examined for aymptomatic cutaneous nodules mainly on the back and chest. The individual lesions varying from a few millimetres to several centimetres in size, were indurated, and showed minimal epidermal changes. Histologically, the nodules were characterized by an excessive accumulation of dense, coarse collagen fibres in the dermis. The elastic fibres appeared diminished in number, and in some areas they were abnormally thin and fragmented. The lesions, therefore, were connective tissue naevi of the collagen type. On the basis of the family history and histological observations the patients were diagnosed as having familial cutaneous collagenoma. Examination of the family pedigree indicated that the dermal nodules in familial cutaneous collagenoma were inherited in an autosomal dominant pattern. It was also observed that the lesions had an onset at the age of 15 to 19 years, and their number increased significantly during pregnancy. It is conceivable that familial cutaneous collagenoma is an inherited condition whose expression may be under a hormonal control.

Nuchal-type fibroma

“…These lesions usually present as slightly elevated, small dermal nodules that may cluster to form one or more plaques. [32][33][34] Whereas some authors propose segregation of these lesions based on the relative amount of each connective tissue component, others see no clear advantage to this approach. Connective tissue nevi may be hereditary, as seen with Buschke-Ollendorf syndrome (connective tissue nevi with osteopoikilosis), familial cutaneous collagenoma (multiple connective tissue nevi of the collagen type symmetrically distributed on the trunk and upper arms), and tuberous sclerosis (collagen nevus/ shagreen patch in association with other abnormalities, including gliomas, rhabdomyomas, angiomyolipomas, and cutaneous angiofibromas).…”

Development of collagenomas during pregnancy

“…3 They vary from a few millimeters to several centimeters in size and from a dozen to greater than 100 in number. The nodules are indurated and show little epidermal change except for the occasional appearance of a peau d' orange surface.…”

“…1,2 In one family with reported FCC, two of the women developed collagenomas after pregnancy and experienced an increase of lesions during subsequent pregnancies. 3 It was considered conceivable that growth of the collagenomas was influenced by the hormones of pregnancy and puberty. 1,3 This report discusses collagenomas occurring during a woman's 1st gestation without an associated family history.…”

“…3 It was considered conceivable that growth of the collagenomas was influenced by the hormones of pregnancy and puberty. 1,3 This report discusses collagenomas occurring during a woman's 1st gestation without an associated family history. We review the reported cases of collagenomas that have been linked to pregnancy.…”

Eruptive Collagenoma in a mongol girl: A rare association

“…Thus a diagnosis of sporadic eruptive collagenoma with Down syndrome was made. Collagenomas in FCC are also distributed symmetrically on trunk and proximal extremities, but are more numerous (in hundreds) and are also associated with various cardiac abnormalities like cardiomyopathy and conduction disorders [3,6]. Shagreen patches (plaques of collagenoma) are present in tuberous sclerosis with other classic cutaneous findings like ash-leaf macules, facial angiofibromas, periungual fibromas (Koenen's tumor), gingival fibromas and fibrous plaque of forehead.…”