Familial cutaneous collagenoma: report of an affected family

A 44-year-old white woman was admitted to our hospital for the investigation of many roundish, pale-colored, nodular lesions of different sizes, ranging from a few millimeters to some centimeters, symmetrically grouped on the shoulders ( Fig. 1 ), trunk, upper limbs, and abdomen. The lesions first appeared at 20 years of age on the upper chest around the clavicular region, and thereafter gradually increased on the trunk and upper limbs; they were completely asymptomatic, appearing on normal skin without a previous history of inflammation and/or trauma. No scarring or atrophy was evident. The smaller lesions exhibited a miliaria-like shape, being evident in particular on stretching of the skin; the larger ones showed a firm-elastic density, no adhesion to surrounding tissue, and deep localization in the skin. No hypopigmented macules or sebaceous adenoma-like lesions were present. Skin biopsy of a nodular lesion from the right shoulder revealed a normal epidermis and a dermis filled with bundles of dense and coarse collagen fibers ( Fig. 2 ). Elastic fibers appeared thin and decreased in number under Verhoeff–van Gieson stain ( Fig. 3 ). A diagnosis of cutaneous collagenoma was proposed. Routine laboratory investigations were within the normal range. Chest and skeleton (hands, pelvis, and long bones) X-ray, electrocardiogram, and echocardiogram showed no abnormality.

Figure 1 Open in figure viewer PowerPoint Nodular papules localized on the right shoulder     

Familial cutaneous collagenoma: new affected family with prepubertal onset

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.     

Familial cutaneous collagenoma: a clinicopathologic study of two new cases

Two siblings with familial cutaneous collagenoma syndrome had the essential clinical features of multiple skin-colored nodules on the trunk and upper arms. On light microscopy, histopathologic findings included excessive accumulation of dense, coarse collagen in the dermis. Elastic tissue stains demonstrated a proportionately diminished number of abnormal elastic fibers intermingled with the collagen bundles. A predominance of densely packed collagen bundles of normal morphology with a marked decrease in abnormal elastic tissue were the major ultrastructural features. The diagnosis was therefore confirmed to be connective tissue nevi of the collagen type. The differential diagnosis of connective tissue nevi disorders is delineated.     

Familial primary cutaneous amyloidosis. Clinical, genetic, and immunofluorescent studies.

Familial primary cutaneous amyloidosis, a rare, autosomal dominant genodermatosis, affected 16 of 46 family members of German descent. Previous case reports involved families of Russian, Spanish, or Chinese descent. The finding of IgG, IgM, C3 in the amyloid deposits confirms recent reports of immunofluorescent dermal amyloid deposits.     

Familial primary cutaneous amyloidosis in a South African family

Four members of a white South African family, spanning four generations were diagnosed as suffering from familial primary lichen amyloidosis. All showed similar clinical features which included scaling papules on the lower legs and arms, and a pebbled, lichenified appearance of the skin on the back. The diagnosis was confirmed by light and electron microscopy. This is the eleventh report of familial primary cutaneous amyloidosis and the first in South Africa.     

席纹状胶原瘤

报告1例席纹状胶原瘤。患者男,46岁。背部肿物40年余,缓慢增长,无自觉症状。无系统性疾病病史。皮损组织病理检查示表皮轻度萎缩,真皮内可见一边界清楚的结节,无包膜,病变均匀、局限,由大量透明样变的胶原束组成,胶原束之间见许多裂隙,排列成席纹状。诊断:席纹状胶原瘤。     

Isolated plantar collagenoma: a case report

Collagenoma is a hamartomatous lesion consisting of proliferation of normal collagen tissue. We describe a 19-year-old girl with a firm, elastic 3 x 2 cm nodule located on her right plantar fossa. Histopathologically, dense, coarse, thick collagen fibers were located in the dermis. In addition, the number of elastic fibers was slightly decreased. Based on these findings, the case was diagnosed as isolated plantar collagenoma.     

Familial multiple lipomatosis: report of a new family

Familial multiple lipomatosis (FML) is a rare entity. We report a family with this disease. Karyotypic analysis was performed on tissue isolated from excised lipomas and peripheral blood. No chromosomal abnormalities were found. This is the first report of karyotypic analysis of lipomas removed from a patient with FML. The finding of a normal karyotype is important because approximately 25% of spontaneous lipomas will have abnormal karyotypes; therefore, we felt there was a significant probability that familial lipomas in FML would have abnormal karyotypes.     

Familial cutaneous and uterine leiomyomas: case report

Cutaneous leiomyomas are rare, benign tumors arising from the arrectores pilorum muscles of the skin, the tunica dartos of the scrotum, muscles of the areola of the nipple, and vulvar or vascular smooth muscles. Multiple cutaneous leiomyomas originate from the arrectores pilorum muscles of the skin (piloleiomyomata cutis). Occasionally, they seem hereditary and may be associated with uterine myomas. We present a family in which the mother and 4 of her 6 daughters had uterine myomas. All sisters had to undergo hysterectomy before the age of 40, and three of them had multiple cutaneous leiomyomas simultaneously. Our observations support the suggestion that this kind of leiomyomas is a disorder with autosomal dominant inheritance with incomplete gene penetration. Moreover, the data indicate the necessity of periodical examinations to rule out the presence of uterine myomas not only in cutaneous leiomyoma patients, but also in other women in a given family.     

Familial basaloid follicular hamartoma: a report of one family

Basaloid follicular hamartoma is a rare but benign adnexal neoplasm that can simulate basal cell carcinoma. Both sporadic and familial variants have been described. We illustrate a family cluster of this unusual entity which presented as milia-like or hyperpigmented papules. Criteria for distinction between the hamartoma and carcinoma are delineated, although evolution of basaloid follicular hamartoma into basal cell carcinoma may also be a possibility.     

Eruptive collagenoma. Apropos of a case with ultrastructural study

A 29-year-old male patient was examined for numerous asymptomatic dermal nodules symmetrically distributed over the back and the shoulders. The nodules were firm, round to oval and varied in size from a few millimeters to 2 centimeters. They had appeared in normal skin without any known previous inflammation or injury, and they has been present without modification for nine years. At histological examination a dermal accumulation of abundant and large collagen bundles was observed. Elastic fibers seemed to be less numerous than normally. Alcian blue showed no increase in acid mucopolysaccharides. An ultrastructural study displayed normal, mature collagen fibers arranged in large bundles. Cutaneous collagenoma, initially described by Colomb as "eruptive collagenoma" is a rare disorder of unknown etiology occurring in young adults as symptomless dermal nodules without previous history of illness or injury and mostly localized to the back. No change is usually observed in these nodules for several years. Histologically, the nodules are characterized by a proliferation of collagen in the dermis; elastic fibers are generally reduced in number. Our ultrastructural study showed that proliferation of normal collagen fibers is the main morphological finding.     

Familial cutaneous mycosis fungoides: successful treatment with a combination of gemcitabine and alemtuzumab

We report a familial cutaneous T-cell lymphoma in father and son. After different treatment modalities without lasting responses, the son was treated with gemcitabine as single agent and due to insufficient effect with alemtuzumab monotherapy. Only after the two drugs had been combined did we observe a remarkable response of the skin lesions and disappearance of enlarged lymph nodes. The combined treatment with gemcitabine and alemtuzumab was well tolerated, and no increased toxicity was noted. The combination of these two active agents may provide an additional option in the treatment of cutaneous T-cell lymphoma.     

Dysplastic nevus syndrome. Familial and sporadic precursors of cutaneous melanoma

Familial dysplastic nevus syndrome is an autosomal-dominant precursor of hereditary melanoma in which individuals have clinically and histologically distinctive nevi and a markedly increased risk for development of melanoma. Dysplastic nevi also are found in sporadic forms. Classification of the condition of the patient and proper management including regular examination of nevi can help to determine the risk of melanoma and minimize the potential for neoplastic progression.     

Familial cutaneous collagenomas resulting from a novel mutation in LEMD3

BACKGROUND: The MDM2 oncoprotein promotes cell survival and cell cycle progression by inhibiting the p53 tumour suppressor protein. Further, overexpression of the MDM2 gene can inhibit DNA double-strand break repair in a p53-independent manner. Recent studies have shown that a single nucleotide polymorphism (SNP) in the intronic promoter region of MDM2 (called SNP309) can significantly change the expression of MDM2 and thereby suppress the p53 pathway. This SNP was also found to be associated with the onset and risk of different cancer types. Basal cell carcinoma of the skin (BCC) is one of the most common neoplasms in the world. BCC development is associated with environmental factors (especially sun exposure) as well as heritable factors. OBJECTIVES: The present case-control study investigated the association of the MDM2 SNP309 with the risk and the age at onset of BCC. Methods Data from 509 individuals affected by BCC and 513 healthy controls were genotyped with TaqMan polymerase chain reaction. RESULTS: Cases and controls showed a similar genotype distribution and the SNP did not modify the age at onset of BCC. CONCLUSIONS: These results suggest that the MDM2 SNP309 alone affects neither the risk nor the age at onset of BCC.     

Familial generalized multiple glomangiomyoma: report of a new family,with immunohistochemical and ultrastructural studies and review of the literature

Glomus tumors are benign lesions which often appear as solitary bluish nodules. They can also be multiple, and can be either acquired or congenital. Histopathologically glomus tumors are classified into three different variants: solid glomus tumor, glomangioma, and glomangiomyoma, which is the least frequent type. We report three instances of familial generalized multiple glomangiomyoma in a woman and her two children. Seven members of the family in two consecutive generations were affected, suggesting autosomal dominant inheritance. We performed a thorough clinical study, complete blood and platelet counts, stool for occult blood, karyotype, abdominal echography (which showed an asymptomatic solitary hepatic vascular lesion in one of the patients), gastrointestinal endoscopy, and skin biopsy with immunohistologic and ultrastructural studies. We believe that the terms glomangioma and glomangiomyoma actually designate the same lesion, with transitional areas from typical glomus cells to well-defined conventional smooth muscle cells. Although complete evaluation should be performed in all patients with multiple glomus tumors in order to detect possible occult systemic lesions, we only recommend treatment for symptomatic lesions. To our knowledge, this is the first report of an instance of familial multiple glomangiomyoma.