Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The embryology and anatomy of the ano-perineal region explain the complex pathology which is difficult to treat. Six types of lesions are discussed. Congenital skin lesions: naevus or angiomas, requiring the same procedures of local autoplasty and graft as those of other regions, whenever they are extensive. Infectious lesions are dominated by Verneuil's disease, chronic hidradenitis or acne conglobata. Treatment involves wide excision which is sufficiently deep, followed by skin graft. Cancerous or pre-cancerous lesions. A distinction must be made between Bowen's disease and Paget's disease: the first is a precancerous lesion and the second is a sign of underlying carcinoma. The treatment is very different for the two conditions. Radiation dermatitis is not exceptional. Surgical treatment is required, but it is difficult. Radio-necroses can be repaired with epiplooplasty and a musculo-cutaneous flap from gluteus maximus. Post-traumatic and surgical sequelae sometimes need to be repaired by a plastic operation. Anal continence can be treated by surgical repair.
 ...
PMID:[Reconstructive surgery of the anoperineal region]. 609 88

The apocrine nevus (AN) is a rare tumor occurring in the upper chest and the axilla. We report a case of a AN in a 33-year-old female occurring unilaterally. The presenting complaint related to tenderness and swelling in the right axilla. The initial impression was hidradenitis suppurativa. The gross specimen revealed the presence of irregular thickening just beneath the dermal subcutaneous interface. Microscopically the lesion was composed of mature apocrine glands with apical snouts. The glands were arranged in lobules divided by thin fibrous septa. Immunohistochemical studies revealed the following profile in the glandular epithelium: positive low molecular weight cytokeratin, epithelial membrane antigen, and gross cystic disease fluid protein reactivity and negative high molecular cytokeratin and S-100 protein reactivity. Carcinoembryonic antigen reactivity was found in the duct epithelium. Ultrastructural studies revealed cells lining the lumen of the glands with a concentration of granules in the apical region and light and dark granules. These findings support the previously described light microscopic observations and provide unreported ultrastructural studies in this rare tumor.
 ...
PMID:Apocrine nevus: light microscopic, immunohistochemical and ultrastructural studies of a case. 846 22

In mouse the melanocortin 5 receptor is known to regulate sebaceous gland function. To clarify its role in man, we have studied melanocortin 5 receptor expression in skin, and allelic variation at the melanocortin 5 receptor locus in diverse human populations and candidate disease groups. Melanocortin 5 receptor protein and mRNA expression were studied by immunohistochemistry and reverse transcriptase polymerase chain reaction. Melanocortin 5 receptor mRNA was detected in normal skin and cultured keratinocytes but not in cultured fibroblasts or melanocytes. Immunohistochemistry revealed melanocortin 5 receptor immunoreactivity in the epithelium and appendages, including the sebaceous gland, eccrine glands, and apocrine glands, as well as low level expression in the interfollciular epidermis. In order to screen for genetic diversity in the melanocortin 5 receptor that might be useful for allelic association studies we sequenced the entire melanocortin 5 receptor coding region in a range of human populations. One nonsynonymous change (Phe209Leu) and four synonymous changes (Ala81Ala, Asp108Asp, Ser125Ser, and Thr248Thr) were identified. Similar results were found in each of the populations except for the Inuit in which only the Asp108Asp variant was seen. The apparent "global distribution" of melanocortin 5 receptor variants may indicate that they are old in evolutionary terms. Variation of melanocortin 5 receptor was examined in patients with acne (n = 21), hidradenitis supprativa (n = 4), and sebaceous gland lesions comprising sebaceous nevi, adenomas, and hyperplasia (n = 13). No additional mutations were found. In order to determine the functional status of the Phe209Leu change, increase in cAMP in response to stimulation with alpha-melanocyte-stimulating hormone was measured in HEK-293 cells transfected with either wild-type or the Phe209Leu variant. The variant melanocortin 5 receptor was shown to act in a concentration-dependent manner, which did not differ from that of wild type. We have therefore found no evidence of a causative role for melanocortin 5 receptor in sebaceous gland dysfunction, and in the absence of any association between variation at the locus and disease group, the pathophysiologic role of the melanocortin 5 receptor in man requires further study.
 ...
PMID:Expression, candidate gene, and population studies of the melanocortin 5 receptor. 1128 24

Naevus comedonicus is a rare, benign hamartoma consisting of grouped abnormal hair follicles and, occasionally, associated with other diseases. We describe an infant who developed hidradenitis-like lesions in an inguinal naevus comedonicus following increased mechanical stress on the region. It is speculated that the degree of strain on a hair follicle is increased when its diameter is increased, leading to wall ruptures. We hypothesise that this serendipitous observation provides a model for the way mechanical stress can account for the development of hidradenitis suppurativa in some patients.
 ...
PMID:Hidradenitis suppurativa complicating naevus comedonicus: the possible influence of mechanical stress on the development of hidradenitis suppurativa. 2038 29

Mutations in the fibroblast growth factor-receptor gene 2 (FGFR2) gene have been implicated in numerous diseases, including nevus comedonicus (NC) and naevoid acne that have somatic missense mutations in FGFR2 in the affected tissue. A patient presented in our department with unusual, innumerable large comedones throughout his back reminiscient of NC, as well as multifocal hidradenitis suppurativa and acne. Topical and systemic treatments were unsuccessful. Whole exome sequencing of blood-derived DNA detected a germline mutation in FGFR2 that was predicted to be damaging. This could explain the multifocal and severe nature of the disease. We suggest screening other, phenotypically similar patients for FGFR2 mutations. Our findings, once confirmed independently, could indicate that therapeutic modulation of FGFR signaling in the acne tetrad could be effective.
 ...
PMID:Generalized Comedones, Acne, and Hidradenitis Suppurativa in a Patient with an FGFR2 Missense Mutation. 2829 56

Nevus comedonicus is a rare, benign hamartoma of the pilosebaceous unit that may be isolated or part of the nevus comedonicus syndrome. Although rare in children, complication by hidradenitis suppurativa-like lesions has been described. We present a report of a 9-year-old girl in whom surgical excision was curative, with a review of the relevant literature.
 ...
PMID:Congenital nevus comedonicus complicated by a hidradenitis suppurativa-like lesion: Report of a childhood case. 2995 17

Nevus comedonicus and hidradenitis suppurativa (HS) are disorders of the pilosebaceous unit sharing a similar pathogenesis of follicular occlusion. To our knowledge, less than 10 cases of HS-like lesions complicating nevus comedonicus have been reported. We describe a six-year-old female child with congenital linear nevus comedonicus in the left axilla and groin, complicated by recurrent HS-like lesions in the two years prior to presenting to our clinic. After a meticulous review of the literature, we propose a novel term, nevus comedonicus suppurativa, for this clinical entity.
 ...
PMID:Nevus Comedonicus Suppurativa: A Report of a Novel Entity. 3288 17