Familial cutaneous collagenoma is a rare autosomal dominant condition characterized by multiple collagenomas appearing on the trunk after puberty. This condition has a possible association with cardiovascular disease and must be distinguished from several other diseases in which collagenomas may be found.
Collagenomas are uncommon connective tissue nevi in which dense collagen bundles are found in the dermis. Multiple collagenomas are a component of several diseases and syndromes, including Buschke-Ollendorf syndrome, tuberous sclerosis, eruptive collagenomas, and familial cutaneous collagenoma.
Buschke-Ollendorf syndrome is inherited in an autosomal dominant fashion and is characterized by the features of dermatofibrosis lenticularis disseminata and osteopoikilosis. The expression of these features may be variable. Osteopoikilosis is the finding of 1-to-10-mm well-circumscribed, benign, sclerotic densities in the ends of long bones, the pelvis, and the hands.1 These asymptomatic densities may be demonstrated by plain films, which were normal in the case of the current patient. The cutaneous lesions in Buschke-Ollendorf syndrome, dermatofibrosis lenticularis disseminata, are most often elastic connective tissue nevi, but collagenomas may also be present. These lesions have a predilection for the lower part of the trunk, arms, and buttocks and most often initially appear in childhood.2 The distribution and age of onset of the collagenomas as well as the normal plain films of the hands, pelvis, and long bones in the present patient are inconsistent with a diagnosis of Buschke-Ollendorf syndrome.
Tuberous sclerosis, an autosomal dominant neurocutaneous disease, is characterized by cutaneous and internal hamartomas including the shagreen patch. These connective tissue nevi are typically single, yellow, irregular plaques with a leathery surface that are found on the lower part of the back. Thus, the clinical presentation easily distinguishes these collagenomas from the lesions seen in familial cutaneous collagenoma. Diagnosis of tuberous sclerosis is further facilitated by the finding of other characteristic cutaneous lesions including facial angiofibromas, ash-leaf macules, periungual fibromas, and confetti-like macules.3
Eruptive collagenoma cases may present in an identical fashion to cases of familial cutaneous collagenoma but lack evidence of inheritance or associated systemic findings. The lesions of eruptive collagenoma appear in the first or second decades as cutaneous nodules and papules distributed on the lower trunk and extremities.4 While lesions typically appear in the preadolescent period, cases of eruptive collagenomas in early adulthood have been reported, as well as a case during pregnancy.5 Familial cutaneous collagenoma has never been reported to initially present during pregnancy; however, 2 women have been described to have experienced an increase in the number of lesions during pregnancy.6 These cases raise the question as to whether the growth of collagenomas in eruptive collagenoma or familial cutaneous collagenoma may be influenced by hormonal factors. The patient we describe here has never been pregnant but did initially develop collagenomas following puberty.
Familial cutaneous collagenoma is an autosomal dominant condition, first described in 1968. Six families, including a total of 18 affected individuals, have been reported in the literature.6–11 The typical presentation is the development of asymptomatic cutaneous nodules, symmetrically distributed over the upper part of the trunk and mid back, with onset after puberty (Table). The patient described in this report and her family are the seventh known family with familial cutaneous collagenoma.
|Inheritance pattern||Autosomal dominant|
|Age of onset||Puberty|
|Cutaneous findings||Asymptomatic cutaneous nodules, symmetrically distributed over the upper part of the trunk and back|
|Possible associations||Cardiac disease|
|Treatment options||Surgical excision or intralesional steroid injection of cutaneous lesions|
Of interest, 4 of the 18 described patients diagnosed with familial cutaneous collagenoma have also had cardiomyopathy, 2 have had conduction abnormalities, 1 has had coronary artery disease, and 3 have had hypertension. These comorbidities have led several authors to believe that there may be an association with underlying cardiac disease, possibly due to fibrosis of heart structures and blood vessel walls.6
This patient exprienced advanced cardiovascular disease from a young age and has a family history of cardiomyopathy. While her severe cardiovascular disease can be explained by the presence of diabetes, collagen deposition in the vascular walls is a possible accelerating factor in the rapid progression of her heart disease. A cardiac biopsy would be required to document collagen deposition in the myocardium and blood vessel walls.
Treatment of the cutaneous manifestations of this patient's disease has included surgery and intralesional steroid injections. Collagenomas in locations that caused irritation to the patient were excised without recurrence; however, new collagenomas have continued to develop at other sites. Several lesions have also been injected with triamcinolone acetonide, with marked reduction in size. Use of intralesional steroids is a promising therapeutic approach for problematic collagenomas.