Collagenoma, Familial Cutaneous

Last update 01 Nov 2024

Basic Info

Synonyms

COLLAGENOMA, FAMILIAL CUTANEOUS, Collagenoma, Familial Cutaneous, Familial cutaneous collagenoma

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Introduction

Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.

100 Clinical Results associated with Collagenoma, Familial Cutaneous

100 Translational Medicine associated with Collagenoma, Familial Cutaneous

0 Patents (Medical) associated with Collagenoma, Familial Cutaneous

Literatures (Medical) associated with Collagenoma, Familial Cutaneous

01 Jun 2016·Acta dermatovenerologica Croatica : ADCQ4 · MEDICINE

Zosteriform Collagen Nevus in an Infant.

Q4 · MEDICINE

Article

Author: Demirkesen, Cuyan ; Kıvanç Altunay, Ilknur Kıvanç ; Aktaş, Ezgi ; Aksu Çerman, Aslı

Connective tissue nevi (CTN) are dermal hamartomas characterized by an imbalance in the amount and distribution of the normal components of the extracellular dermal matrix, specifically collagen, elastin, and/or proteoglicans. The term "CTN" was first mentioned by Lewandowsky in 1921 (1), although it was not accepted until the review by Gutmann in 1926 (2). Classification of CTN was established by Uitto et al. (3) in 1980 according to clinical, genetic, and histopathological features. But this classification did not include zosteriform nevi. The more recent Pierard and Lapiere (4) classification seems to be a more suitable method of classification for zosteriform nevi. They classified CTN into two groups: (1) reticular and (2) adventitial. Zosteriform nevus is a rare form of reticular CTN that is diagnosed according to its clinical distribution. Here we report a collagen nevus in an infant that followed a zosteriform pattern. An 8-month-old girl presented with flesh-colored plaques on the right buttock in a zosteriform distribution, which had been present since birth. The plaques appeared to be well-defined cobblestone-like nodules on palpation (Figure 1). Systemic examination, laboratory tests and radiologic examinations did not reveal any abnormalities. The patient had no associated disease and no history of similar skin findings among family members. A skin punch biopsy was performed from one of the nodules. The histopathologic examination showed significantly increased density of thickened collagen fibers in the lower dermis and subcutaneous tissue. Verhoeff-van Gieson and orcein stains demonstrated the presence of dense collagen fibers with diminished elastic fibers (Figure 2). Four subtypes of collagen tissue nevus have been described: (I) familial cutaneous collagenoma, (II) shagreen patches in tuberous sclerosis, (III) eruptive collagenoma, (IV) and isolated collagenoma (5). Isolated collagenoma with lack of family history is fairly rare. It is sporadic, localized to only one body region, and not associated with any disease. In confluent plaques it has the appearance of "peau de chagrin" or a cobblestone-like pattern. The reported presentations include paving stone nevi, plantar fibromatosis, papulolinear lesions, and zosteriform lesions (5). Zosteriform distribution is an extremely rare variety of connective tissue nevus. Steiner (6) was the first to describe the condition in 1944, in a 5-year-old girl who presented with nevi in a zosteriform distribution. The histopathology of the lesion revealed an abnormality in both collagen and elastin fibers. Only 11 other cases have been reported as zosteriform CTN in dermatological literature. To the best of our knowledge, only 3 collagen nevi in a zosteriform distribution have been previously described in the literature. De et al. (7) described the first case in a 25-year-old man presenting a collagen tissue nevus with zosteriform distribution located over the lower back. Subsequently, Kumari et al. (8) described the second case in a 20-year-old man presenting a large, flesh-colored, well-defined plaque in a zosteriform distribution on his right buttock since birth. Topal et al. (9) reported another case of a 10-year-old boy with a zosteriform collagen tissue nevus on his right arm as sclerotic papules and plaques. Clinically, zosteriform CTN has similar morphology and distribution to nevus lipomatosus superficialis (NLS) or segmental neurofibromatosis. The latter differential possibility needs to be excluded due to its association with gliomas. The histopathologic findings of NLS make it easy to differentiate from zosteriform CTN. The peculiar finding of ectopic fat in the dermis is considered to be almost pathognomonic of NLS (10). In conclusion, the zosteriform distribution of CTN is very rare, especially in the variety with collagen predominance. As the lesion remains asymptomatic, with only cosmetic effects, the condition needs no specific treatment. The present case is a rare type of isolated collagenoma with zosteriform distribution presenting over the right buttock with no associated abnormalities and family history.

01 Jan 2011·Annals of Dermatology

A Case of Familial Cutaneous Collagenoma

Author: Park, Mi-Youn ; Shin, Mi-Seon ; Choi, Yeon-Jin ; Ahn, Ji-Young ; Lee, Jung-Yeon

Familial cutaneous collagenoma is a rare hereditary disease that is inherited in an autosomal dominant pattern. It is characterized by early onset of multiple, skin-colored, sometimes hypopigmented cutaneous nodules, which initially show a symmetrical arrangement on the trunk, and later on the neck and upper limbs. We report on a case of a 45-year-old female who presented with multiple oval to round hypopigmented papules measuring 5~15 mm on her trunk. Histopathologically, the lesions showed an increased amount of collagen fibers and decreased, fragmented elastic fibers in the dermis. The skin lesions were diagnosed as familial cutaneous collagenoma and no treatment was administered. To the best of our knowledge, our case is the first reported case of familial cutaneous collagenoma (FCC) in the Korean literature.

01 Jan 2008·SKINmed: Dermatology for the Clinician

Familial Cutaneous Collagenoma

Article

Author: April C. Deng ; Caroline Wessely ; John Petrali ; Marianne E. Dawn ; Anthony A. Gaspari ; David Jaffe

A 41‐year‐old woman presented to our dermatology clinic in February 2005 with a chief complaint of numerous flesh‐colored nodules on her back and abdomen. She initially noticed the lesions at age 17 years. The plaques had increased in size and number over time, but remained asymptomatic. The patient reported multiple similar lesions on a maternal uncle and a cousin. Her family history was also notable for cardiomyopathy, resulting in the death of her mother. The patient's past medical history was notable for poorly controlled type I diabetes, currently managed with an insulin pump; and coronary artery disease. The patient had undergone multiple cardiac procedures before the age of 40 years, including quadruple coronary artery bypass grafting surgery and placement of 9 cardiac stents. Her ejection fraction on cardiac catheterization in November 2004 was 65% with no wall motion abnormalities. On physical examination, numerous spongy, discrete, flesh‐colored plaques and nodules were seen concentrated across the upper part of her back between the scapulae as well as underneath the breasts and across the flanks (Figure 1). All lesions were asymptomatic. Prior workup of this patient had included plain films of the long bones and hands, which were within normal limits. A biopsy from lesional skin on the back highlighted by trichome stain showed an increased number of markedly thickened and eosinophilic dermal collagen bundles compared with adjacent normal skin. Immunohistochemical studies with anticollagen type I and type III antibodies confirmed that the increased collagen material consisted of type I collagen fibers, which is the same type of collagen found in normal dermis. The elastic fibers, highlighted by Verhoeff‐van Gieson stain (Figure 2), were diminished and haphazardly arranged. No increased cellular component or inflammatory infiltrate was observed. These findings were consistent with a collagenoma. Further analysis of the lesional tissue by electron microscopy revealed that the ultrastructural appearance of the collagen fibers, including arrangement and diameters, were not significantly different from that of the normal tissue (Figure 3).On physical examination, numerous spongy, flesh‐colored plaques and nodules were seen concentrated across the upper part of the patient's back between the scapulae.

image

Elastic stain of lesional tissue demonstrates a diminished number of abnormal elastic fibers intermingled with thickened collagen bundles; Verhoeff‐van Gieson stain, original magnification ×40.

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On electron microscopy, the ultrastructural appearance of the collagen fibers, including arrangement and diameters, was not significantly different from that of the normal tissue.

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