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)

Epidermolytic hyperkeratosis (EH) has been described as a reaction pattern in a variety of solitary skin lesions. We have noted that EH seems to occur more frequently in association with atypical than with typical acquired nevi. To support or refute this observation, the prevalence of EH in 250 cases of atypical compound nevi and in 250 cases of typical compound nevi was determined. EH was identified in 10 cases of atypical compound nevi and in two cases of typical compound nevi, which is a statistically significant difference with p value < 0.02. Since EH occurred in only 4% of atypical nevi examined, it should not be considered a diagnostic criterion. However, the identification of EH in otherwise histologically typical nevi should prompt the pathologist to make sure the lesion has been adequately sampled.
 ...
PMID:Epidermolytic hyperkeratosis in nevi. A possible marker for atypia. 873 90

Keratins are heteropolymeric proteins which form the intermediate filament cytoskeleton in epithelial cells. Since 1991, mutations in several keratin genes have been found to cause a variety of human diseases affecting the epidermis and other epithelial structures. Epidermolysis bullosa simplex (EBS) was the first mechanobullous disease for which the underlying genetic lesion was found, with mutations in both the K5 and K14 genes rendering basal epidermal keratinocytes less resilient to trauma, resulting in skin fragility. The site of mutation in the keratin protein correlates with phenotypic severity in this disorder. Since mutations were identified in the basal cell keratins, the total number of keratin genes associated with diseases has risen to eleven. The rod domains of suprabasal keratins K1 and K10 are mutated in bullous congenital ichthyosiform erythroderma (BCIE; also called epidermolytic hyperkeratosis, EH) and mosaicism for K1/K10 mutations results in a nevoid distribution of EH. An unusual mutation in the VI domain of K1 has also been found to cause diffuse non-epidermolytic palmoplantar keratoderma (DNEPPK). Mutations in palmoplantar specific keratin K9 cause epidermolytic palmoplantar keratoderma (EPPK) and mutations in the late differentiation suprabasal keratin K2e cause ichthyosis bullosa of Siemens (IBS). In the last year or so, mutations were discovered in differentiation specific keratins K6a and K16 causing pachyonychia congenita type 1 and K17 mutations occur in pachyonychia congenita type 2. K16 and K17 mutations have also been reported to produce phenotypes with little or no nail changes: K16 mutations can present as focal non-epidermolytic palmoplantar keratoderma (NEPPK) and K17 mutations can result in a phenotype resembling steatocystoma multiplex. Recently, mutation of mucosal keratin pair K4 and K13 has been shown to underlie white sponge nevus (WSN). This year, the first mutations in a keratin-associated protein, plectin, were shown to cause a variant of epidermolysis bullosa associated with late-onset muscular dystrophy (MD-EBS). An unusual mutation has been identified in K5 which is responsible for EBS with mottled pigmentation and genetic linkage analysis suggests that the hair disorder monilethrix is likely to be due to a mutation in a hair keratin. The study of keratin diseases has led to a better understanding of the importance of the intermediate filament cytoskeleton and associated connector molecules in maintaining the structural integrity of the epidermis and other high stress epithelial tissues, as well as allowing diagnosis at the molecular level thus facilitating prenatal testing for this heterogeneous group of genodermatoses.
 ...
PMID:Human keratin diseases: hereditary fragility of specific epithelial tissues. 902 91

Epidermolytic hyperkeratosis (EH) is a unique histopathologic alteration of the skin characterized by hyperkeratosis with perinuclear vacuolization of keratinocytes primarily in the stratum granulosum and the stratum malpighii. It is seen as an incidental finding in a variety of conditions, benign and malignant, as well as sporadic and familial. Recently, it has been reported that EH may be associated with dysplastic nevi (nevus with architectural disorder [NAD]). Cases of melanocytic nevi with epidermolytic hyperkeratosis were retrieved from the files of a referral dermatopathology laboratory over a 6-year period. We present a series of 53 cases of EH in both ordinary nevi and NAD. Epidermolytic hyperkeratosis identified in association with NAD accounted for 46 cases or 86.8% of the total lesions while ordinary nevi represented 7 or 13.2% of total cases. Our study confirms that the incidence of EH is higher in association with dysplastic nevi than in ordinary melanocytic nevi and may serve as a marker for NAD, but with lower sensitivity and only moderate specificity.
 ...
PMID:Epidermolytic hyperkeratosis associated with melanocytic nevi: a report of 53 cases. 1180 76

Epidermolytic hyperkeratosis (EH) is a well-described histopathologic pattern characteristic of bullous congenital ichthyosiform erythroderma, an autosomal dominant genodermatosis. It is also noted in cutaneous disorders where mosaicism leads to containment of the clinical and histopathologic changes. EH has been observed as an incidental finding in tissue adjacent to and within lesions such as nevi, scars, malignant melanoma, squamous cell carcinoma, basal cell carcinoma, and seborrheic keratoses. We present two cases of EH within infundibular type follicular cysts, a rare finding only once otherwise reported in 1978.
 ...
PMID:Epidermolytic hyperkeratosis within infundibular cysts. 1738 10

Epidermolytic hyperkeratosis presents with perinuclear vacuolization of the keratinocytes in spinous and granular layers, keratinocytes with ill-defined limits, which leads to a reticulate appearance of the epidermis, an increased number of variously shaped and sized basophilic keratohyalin granules and the same sized eosinophilic trichohyalin granules, at any level of epidermis, mainly in the stratum granulosum, and compact hyperkeratosis. This minor reactive pathologic reaction pattern of skin is found in large variety of diseases. This paper is the first case report of such pattern in inflammatory linear verrucous epidermal nevus. Our case is of a 23-year-old man with pruritic verrucous lesions of trunk and extremities initiated since 13 years ago. Physical examination revealed white linear hyperkeratotic lesions, some of them on erythematous background and also classic epidermal nevus. No skeletal, ophthalmic, and nervous system involvement was detected. Microscopic study of pruritic verrucous lesions showed psoriasiform acanthosis, mild papillomatous, hyperkeratosis, and epidermolytic hyperkeratotic changes in hair follicles and acrosyrinx accompanied with moderate perivascular inflammation.
 ...
PMID:Epidermolytic hyperkeratosis in inflammatory linear verrucous epidermal nevus. 2177 95

A 25-year-old woman presented with a large area of flesh-colored verrucous plaques following the lines of Blaschko on the left side of the body that had been present since 6 months of age. The plaques had been stable and grew proportionately with the patient's body until she reached 20 years of age when they began to thicken and enlarge. Her medical and family history was unremarkable. A shave biopsy revealed a papillomatous epidermis with 3 discrete foci of acantholytic dyskeratosis, with corps ronds and grains that were similar to the histologic findings of Darier disease (DD). Epidermolytic hyperkeratosis was not identified. Our patient's lack of a family history of DD, early-onset disease, and linear presentation along the lines of Blaschko all favored a diagnosis of acantholytic dyskeratotic epidermal nevi (ADEN) versus localized DD.
...
PMID:Acantholytic dyskeratosis occurring within an epidermal nevus. 2408 80

Epidermolytic hyperkeratosis is a histological reaction pattern seen in a variety of disease processes, including epidermolytic ichthyosis, Vorner's epidermolytic palmoplantar keratoderma, epidermal nevus, and solitary epidermolytic acanthoma. Here we present the case of a 59-year-old woman with multiple asymptomatic papules on her vulva. Clinical differential diagnoses included condyloma acuminata, seborrheic keratoses, bowenoid papulosis, adnexal tumors, and papular acantholytic dyskeratosis. Shave biopsy revealed findings consistent with epidermolytic hyperkeratosis. This case represents an interesting presentation of focally disseminated vulvar epidermolytic acanthomas and highlights the importance of a biopsy in establishing this diagnosis.
...
PMID:Presentation of epidermolytic acanthomas as multiple tan papules on the vulva. 2703 69