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)

Three cases of palmo-plantar keratoderma coming from three different families are reported; Clinical features were those of Thost-Unna's disease; histo-pathological and ultrastructural aspects resembled those of the epidermolytic hyperkeratosis. The literature, 13 cases within 7 families with the same clinical and histopathological characteristics (though without study of the ultrastructure), have been reported. The authors propose to term "familial palmo-plantar keratoderma with epidermolytic hyperkeratosis", those cases of palmo-plantar keratoderma with dominant autosomal transmission and the histopathological aspects of the epidermolytic hyperkeratosis (Frost and Van Scott). The relationship of this disease with the naevus unius lateris and the bullous ichtyosiform hyperkeratosis are discussed. All three diseases could represent various phenotypical aspects of the same genetic abnormality of the keratinization process.
Ann Dermatol Venereol 1977 Jan
PMID:[Familial palmo-plantar keratoderma with epidermolytic hyperkeratosis (author's transl)]. 1 86

Quantitative differences in the tyrosinase activity are found at the three types of malignant melanoma of Clark and Mihm by the combined 3,4-dihydroxyphenylalanine-premelanin-reaction. Only a very small activity is present in the junction nevus. In the superficial spreading melanoma the tyrosinase activity is clear, but limited. The lentigo maligna melanoma shows an increased pigmentation. The topmost activity after incubation however is present in the nodular melanoma.
Arch Dermatol Forsch 1975
PMID:Tyrosinase activity in three types of the malignant melanoma: superficial spreading melanoma, lentigo maligna melanoma and nodular melanoma. 5 Jul 62

A 9-year-old boy is described with keratotic pits on the left palm, present since birth, which clinically resembled those seen in comedo naevus. Histology and scanning electron microscopy of skin surface replicas showed the lesions to be large, abnormal sweat ducts. It is suggested that comedo naevi are not necessarily pilosebaceous in origin and that in our case the term sweat duct naevus may be more appropriate.
Br J Dermatol 1979 Dec
PMID:Comedo naevus of the palm--a sweat duct naevus? 9 67

Choroidal melanocytes of the eyes of postnatal animals are classified as postmitotic terminally differentiated cells. They have specific granules, the melanosomes, which undergo changes qualitatively and quantitatively correlated to the animal's increasing age. Epidermal melanocytes, which normally divide only on demand or by stimulation, are classified as intermittent mitotic cells. During their development, lentigines and nevi of the skin show progressive ultrastructural and cytochemical changes similar to those in the choroidal cells, and thus may be considered as aging populations of skin melanocytes. These facts have led to the conclusion that choroidal melanocytes may be used advantageously as a model for studying changes in cells from maturation to senescence.
J Invest Dermatol 1979 Jul
PMID:Aging of melanocytes. 10 43

Although neurofibromatosis and cutaneous melanoma are both diseases of neuroectodermal origin, reports of their association are rare. The case history of a patient with histologically documented neurofibromatosis and a nodular melanoma unrelated to a cafe-au-lait spot or congenital nevus is reported, and the literature reviewed. The appearance of only one patient with neurofibromatosis in a series of 900 patients with melanoma suggests that these diseases are probably not associated with greater frequency than that predicted by chance alone.
Arch Dermatol 1979 Jul
PMID:Cutaneous melanoma in a patient with neurofibromatosis. 11 Feb 69

A mongoloid woman had a nevus of Ota, an ipsilateral congenital cataract, and upper extremity hemiatrophy. To our knowledge, no similar patient has been previously reported. We review the literature concerning the nevus of Ota and cataracts in mongoloid indivuduals.
Arch Dermatol 1976 Sep
PMID:Nevus of Ota with ipsilateral congenital cataract. 13 26

Investigation of rare disorders may sometimes help in the understanding of common problems. We describe a patient with an unusual and previously unreported acne-free naevus occurring in an area severely affected by acne. Investigation revealed smaller sebaceous glands, a reduced sebum excretion rate, decreased number of Corynebacterium acnes in the pilosebaceous ducts and a reduced conversion of testosterone to 5 alphadihydrotestosterone in the areas which were free of acne compared with acne-bearing skin. The results of these investigations support some of the suggested mechanisms responsible for the development of acne.
Br J Dermatol 1977 Mar
PMID:An acne-free naevus. 13 13

The authors report a case of two sisters, having one of them left hemiatrophy, with congenital verrucose lesions, in plaques and lineary, bilateral, in extremities, presenting bouts of inflammatory extensive evolution (mostly on the atrophic side), with spontaneous resolution. Histologically the lesions match with those of Nevil's. The authors discuss the nosologic data with that of Nevil's, with epidermic nevus of Solomon and with variable erythrokeratodermis.
Ann Dermatol Venereol 1979 May
PMID:[Inflammatory variable epidermal naevus (atypical I.L.V.E.N.? A new entity?) (author's transl)]. 15 12

A 52-year-old patient was admitted to the hosptial for evaluation of hypertension. He had two skin lesions, one on the forehead and one in the postauricular area, which had been present since birth. The forehead lesion was a nevus sebaceous and the postauricular lesion was a syringocystadenoma papilliferum. Except for a few patients with widespread nevus sebaceous and syringocystadenoma papilliferum associated with neurologic abnormalities, most of the previously reported patients with these nevi have had solitary lesions of one or the other. An association of nevus sebaceous and syringocystadenoma papilliferum in the same lesion is not uncommon. Despite bleeding and crusting in one of the lesions and despite informing the patient that a malignant neoplasm may develop in these nevi, he refused excision of either of the lesions.
Arch Dermatol 1976 Feb
PMID:Nevus sebaceous and syringocystadenoma papilliferum. 18 8

These 9 cases confirm that tuberose sclerosis, von Recklinghausen's neurofibromatosis, incontinentia pigmenti, linear warty sebaceous naevus and alopecic naevus resulting in a woolly naevus of the scalp may be complicated by flexion spasms with hypsarhythmia. Early diagnosis of hypsarhythmia makes possible specific treatment with ACTH or hydrocortisone.
Ann Dermatol Venereol 1977 Jan
PMID:[Dermo-neuro-hypsarrhythmia. Association of a congenital dermatosis and hypsarthymia. 9 cases (author's transl)]. 19 Sep 38


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