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

Perusal of the literature revealed that until 1970, 13 children with malignant melanoma of the head and neck had been reported. This group includes two cases of melanoma that developed in a giant cell nevus, as well as one case of congenital melanoma. The biologic features of prepubertal melanoma appear basically analogous to those of the adult variety. Malignant melanoma of the auricle is described in a 2 1/2-year-old child. Surgical therapy was given, and BCG vaccination was used as an adjuvant. The patient is alive and free of signs of the disease 2 1/2 years following the operation. This appears to be the third reported case of malignant melanoma of the external ear in a child.
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PMID:Malignant melanoma of the head and neck in children. Review of the literature and report of a case. 126 10

Four cases of colonization of nonmelanocytic lesions by dendritic melanocytic cells are reported, one in a verruca vulgaris of the lip, one in a squamous cell carcinoma in situ of mucous membrane overlying a tonsil, one in a lesion of lichen simplex chronicus with a nevocellular nevus of the external ear, and one in a dermatofibrosarcoma protuberans (Bednar tumor). This is an important biological process of melanocytes that must not be confused with the acral-lentiginous (palmar-plantar-subungual-mucosal (P-S-M) melanoma. It is probably much more common than the paucity of published reports would indicate.
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PMID:Colonization of nonmelanocytic cutaneous lesions by dendritic melanocytic cells: a simulant of acral-lentiginous (palmar-plantar-subungual-mucosal) melanoma. 396 84

The complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas (the Carney complex) is a multisystem tumorous disorder that is transmitted as a mendelian autosomal dominant trait. Approximately 150 affected patients are known worldwide. The myxomas, which tend to be multiple in the involved organ, affect the heart, skin and breast. Typical sites for the skin myxomas are the eyelids, external ear canal, and nipples. The lesions commonly recur after excision. The spotty skin pigmentation includes lentigines and blue nevi, but ephelides and junctional and compound nevi also occur. The lentigines are widespread and typically involve the centrofacial area, including the vermilion border of the lips, and the conjunctiva, especially the lacrimal caruncle and the conjunctival semilunar fold. One or more intraoral pigmented spots are seen occasionally. The blue nevi occur on the face, trunk, and limbs, but not the hands and feet. Endocrine overactivity includes Cushing's syndrome (caused by primary pigmented nodular adrenocortical disease), acromegaly (caused by growth hormone-producing pituitary adenoma), and sexual precocity (caused by large-cell calcifying Sertoli cell tumor). The schwannomas are a special histological type, featuring psammoma bodies and melanin. Most commonly, they affect the upper gastrointestinal tract and sympathetic nerve chains, but a few have occurred in the skin. The most serious component of the Carney complex is cardiac myxoma. Patients suspected of having the syndrome (and their primary relatives) should be examined for this neoplasm.
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PMID:Carney complex: the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas. 764 Feb 2

A small series of melanomas of the external ear is presented. The presentation in general was late and they varied from 2.6 mm to 4.8 mm in thickness. The outcome in most of the patients (9 patients) was bad and within 3 years only 4 survived. The fact that 9 patients remembered having a nevus that suddenly changed to melanoma emphasizes the need for early removal of such nevi.
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PMID:Rare sites of melanoma: melanoma of the external ear. 769 85

Rosette formation is a feature that has not been described as occurring in melanocytic neoplasms. We present such a unique case. A 59-year-old man presented with an asymptomatic, soft, hairy 3.0 x 2.0-cm pigmented lesion that had been present for many years in the right external ear, extending from the conchal bowl onto the antitragus area. Examination of histologic sections showed a proliferation of nonatypical and heavily pigmented melanocytes in the superficial dermis and around deep adnexal structures, characteristic of a congenital nevus. In other areas, pigmented spindled and dendritic cells infiltrated thickened collagen bundles in a pattern of a blue nevus. A nodular proliferation of epithelioid melanocytes was seen within the deep dermis and subcutaneous tissue. The periphery of the nodule merged with the surrounding nevus cells. Neoplastic cells with nuclear atypia, melanin pigment, pseudonuclear inclusions, and balloon cell change were present. In addition, there was rosette formation by the tumor cells, with a central aggregate of coarse cell processes. Neuroid cords were also noted. No prominent mitotic figures, necrosis, or significant inflammatory infiltrate were noted. The neoplastic cells were positive for S-100 protein, Mart-1, tyrosinase, neuron-specific enolase, and vimentin. HMB-45 and Ki-67 (MIB-1) labeled only rare neoplastic cells within the proliferative nodule. The tumor cells were negative for synaptophysin, protein gene product 9.5, CD57, epithelial membrane antigen, CD31, and CD34. The central cell processes of the rosettes were negative for trichome, type IV collagen, neurofilament protein, glial fibrillary acidic protein, and tyrosine hydroxylase. We also retrospectively examined 78 congenital nevi of 65 pediatric patients at our institution. Rosette formation was not seen in any of these cases.
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PMID:Rosette formation within a proliferative nodule of an atypical combined melanocytic nevus in an adult. 1287 2

We herein describe a rare case of an intradermal nevus arising in the external auditory meatus. A 36-year-old woman presented with progressive hearing loss on the right ear, and otomicroscopic examination revealed the presence of a large, violaceous, dome-shaped, papillomatous lesion originating from the posterior wall of the external canal of the right ear. Upon excisional biopsy, the tumor was diagnosed as an intradermal nevus. Thus, this is a unique case of intradermal nevus obstructing the external ear canal with the patient presenting with progressive hearing loss. The possibility of a benign nevomelanocytic nevus should not be underestimated when evaluating a lesion obstructing the ear canal, and all melanocytic nevi should be excised instead of biopsied to rule out melanoma.
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PMID:An intradermal nevus of the external auditory meatus. 1601 61

Apocrine glands are tubular glands, which function as scent glands. These are found at only a few sites like the axillae and anogenital region. They are present as modified glands in the external ear canal (ceruminous glands), in the eyelid (Moll's glands) and in the breast (mammary glands). Occasionally, apocrine glands are found on the face, in the scalp and on the abdomen where they are usually small and non-functional. Apocrine glands develop their secretory portion and become functional only at puberty. Tumours of these glands involving only apocrine tissue are very rare. We present an uncommon case of benign apocrine nevi of the axilla, which occurred bilaterally. These nevi are uncommon and only occasional reports are available in literature.
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PMID:Bilateral axillary apocrine nevi--a case report. 1675 79

The first reported case of facial paralysis due to an inflammatory pseudotumor (IPT) of the facial nerve as a complication of epidermal nevus syndrome (ENS) is herein presented. A 10-month-old female patient was diagnosed with ENS at 3 months of age. She was referred to us because of moderate left facial paralysis. Epidermal nevi of her left auricle extended deep into the external ear canal. Otoscopy revealed polypous nevi and cholesteatoma debris filling the left ear. Computed tomography showed a soft mass filling the ear canal, including the middle ear, and an enormously enlarged facial nerve. Surgical exploration revealed numerous polypous nevi, external ear cholesteatoma, and tumorous swelling of the facial nerve. The middle ear ossicles were completely lost. The facial paralysis was improved after decompression surgery, but recurred 5 months later. A second operation was conducted 10 months after the first. During this operation, facial nerve decompression was completed from the geniculate ganglion to near the stylomastoid foramen. Histological diagnosis of the facial nerve tumor was IPT probably caused by chronic external ear inflammation induced by epidermal nevi. The facial paralysis gradually improved to House-Blackmann grade III 5 years after the second operation.
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PMID:Infantile inflammatory pseudotumor of the facial nerve as a complication of epidermal nevus syndrome with cholesteatoma. 2343 76

Alkaptonuria is a rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid (HGA) oxidase, the only enzyme capable of catabolizing HGA. Deficiency of this enzyme leads to excess HGA which deposits in the connective tissue. We present a case of a 64-year-old woman who was referred to the dermatology clinic for a full body mole check and skin cancer screening. Clinically she had blue/gray pigmentation of the external ear and sclera. Also she had a domed papule on the left cheek with punctate gray pigmentation which was biopsied. Histopathological examination showed a benign dermal nevus and nonpolarizable, yellow-brown, irregular shaped fibers. Subsequent organic acid screen showed markedly elevated urinary HGA, diagnostic of alkaptonuria. On specific inquiry, the patient revealed she had a history of bilateral Achilles tendon rupture, black urine, arthritis, and external ear discoloration for many years. The pigmented material was then considered to be HGA deposition within the dermal collagen fibers. However, without the appropriate clinical data and confirmatory lab findings, the pigmented fragments on skin biopsy represent a diagnostic challenge. Measures like low protein diet and ascorbic acid supplementation will slow down the disease progression and potential complications later in life; however, there is no definitive treatment for the disease. We emphasize the prompt recognition of the clinical signs and symptoms as well as the importance of the microscopic findings.
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PMID:Alkaptonuria: A Case Report With Diagnostic Challenge. 2881 44

The incidence of intradermal nevus in the external auditory canal is uncommon. We herein are describing a case of 60-year-old lady who presented with foreign body sensation in the right external ear canal (EAC) with mild discomfort and ear bleed during ear picking. Otoscopic examination revealed hyperpigmented mass on the floor of the outer two third of EAC. Complete excisional biopsy of the mass resulted in histopathology findings of intradermal nevus. Despite the fact that the disease is not alarming, the possibilities of benign melanocytic nevi transformation into malignant lesions such as melanoma need to be ruled out.
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PMID:Intradermal Naevi of External Auditory Canal: Unusual location with a unique presentation. 2970 80


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