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 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Having had the occasion of observing a new case, the authors have started on a new description of a specific autosomal dominant inheritance disease, description which connects an eye trouble with basal cell nevi, with jaw cysts as well as with malformations of the skeleton and nervous lesions, the tumoral lesions having the essential characteristic of possessing and evolutive potential. The authors explain the reasons which have led them to give to this specific disease the name of Gorlin-Goltz phacomatosis.
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PMID:[Gorlin-Goltz phakomatosis (author's transl)]. 14 75

The clinical, genetic, radiological, dental and dermatological aspects of 3 patients with the autosomal dominant basal cell naevus syndrome are reported. An analysis of the phenotypic features of 72 cases described in the literature is presented and compared with a previous analysis. Ash leaf hypopigmentation similar to that found in tuberous sclerosis represents a unique finding in this syndrome. Other similarities to the phacomatoses are discussed. We were able to support a previous report that patients with the basal cell naevus syndrome have a normal end-organ response to parathormone stimulation, and that it is most probably not related to pseudohypoparathyroidism, as earlier reports suggested.
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PMID:[Clinical characteristics and genetic identity of the basal cell nevus syndrome (Gorlin-Goltz syndrome)]. 16 61

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.
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PMID:[Dermo-neuro-hypsarrhythmia. Association of a congenital dermatosis and hypsarthymia. 9 cases (author's transl)]. 19 Sep 38

The case of a female patient with multiple ectodermal and mesodermal malformations present since birth is reported. The cutaneous lesions were of two types: Jadassohn's nevus sebaceus and nevus unius lateris. These entities have been described in the literature as congenital dermatologic alterations of nevoid character and organoid structure. They can be considered as congenital epidermal nevi. In many cases, including this one, there are various associated disorders especially of the nervous system, eyes, and skeleton. Both syndromes are cutaneous hamartomas which can be differentiated histologically but not by the anomalies accompanying them. Their dermatologic aspects are very similar. The histopathologic characteristics of the skin lesions of nevus unius lateris consist of hyperkeratosis, acanthosis, and epidermal papillomatosis. In Jadassohn's nevus sebaceus there are also alterations of the skin adnexa, namely the absence of hair follicles and the presence of numerous mature sebaceus and hyperplastic glands. In general, the presence of organoid nevus may be a sign of multiple ectodermal and mesodermal malformations. Both syndromes are often present in the same patient, as in the case described here, and their etiology is the same. It is based on an alteration in embryogenic development affecting primarily, though not exclusively, the formations of ectodermal origin. Thus Jadassohn's nevus sebaceus and nevus unius lateris are both forms of phacomatosis. Clinical cases have in common the cutaneous cited above, either in combination or singly. The other possible signs and symptoms are variable, depending on which stage of embryogenic development is affected. There may be defects in the structures of both ectodermal and mesodermal origin.
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PMID:[Jadassohn's nevus sebaceus and nevus unius lateris. Report of an observation with multiple dysplasia (author's transl)]. 43 Nov 72

This is a description of a male patient, now 8-years-old, with the syndrome described by Schimmelpennig-Feuerstein and Mims. Characteristic for this clinical picture, which is classified as a phacomatosis, are a striated and sponge-like naevus sebaceus, disorders of the central nervous system taking the form of debility and epileptic attacks, and multiple anomalies of the eyes, such as microphthalmus, coloboma of the eyelids and optic nerve with ablatio falciformis, as well as dermoids and teratomas of the conjunctiva.
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PMID:[Ocular findings in syndroma of Schimmelpenning-Feuerstein and Mims (author's transl)]. 80 41

A retrospective study of bioptic material was used to design the following outline of a histological classification of epithelial skin tumours tentatively compared with handbooks published by the WHO (1) and AFIP (2): I. Tumour-like changes: 1. senile verruca (mixed, acanthotic, melanoacanthotic, hyperkeratonic, reticular, inverted). 2. Virus verrucosities (v. vulgaris, v. plana, c. accuminatum, molluscom contagiosum). 3. Hamartogenic verrucosities (naevus verrucosus, n. comedonicus, fibroepithelial papilloma. 4. Genetically undefined verrucosities (acanthosis nigricans, light cell acanthoma, verrucous dyskeratosis). 5. Cysts (atheroma, epidermoid cyst, dermoid cyst, others). 6. Unclassified. II. Precanceroses: 1. Pseudoepitheliomatous hyperplasis, 2. keratosis senilis, 3. Radiation dermatosis, 4. Unclassified. III. Epithelial tumours A. From surface epithelium 1. Spinocellular carcinoma (basic type, anaplastic, adenoid, sarcomatoid, clear cell carcinoma, intraepidermal). 2. Basocellular carcinoma: a) varieties derived from surface epithelium (intraepithelial, superficial, solid, cystic, invasive), b) varieties with adenoid features (cylindromatous, fibroepithelia), c) varieties with trichoepithelial features (keratinizing, pigment-type, clear cell type), d) naevus varieties (basocellular naevi). 3. Spinobasocellular carcinoma. 4. Unclassifiable. B. Sweat gland tumours: 1. syringocystadenoma papilliferum, 2. hidradenoma papillare, 3. nodular hidradenoma (eccrine spiradenoma, eccrine acrospiroma, myxochondroepithelioma, myoepithelioma, mucinous epithelioma), 4. syringoma, 5. eccrine cylindroma, 6. hidrocystoma, 7. eccrine poroma, 8. carcinomas (so called extramammary Paget carcinoma), 9. unclassifiable. C. Sebaceous gland tumours: 1. adenoma sebaceum, 2. carcinoma sebaceum, 3. quasi tumours (naevus sebaceus, Pringle's hamartoma, steatocystoma multiplex, hyperplasia), 4. unclassifiable. D. Trichoepithelial tumours: 1. trichofolliculoma, 2. follicular poroma, 3. keratoacanthoma, 4. tricholemoma, 5. pilomatrixoma, 6. trichogenic adnexal tumour, 7. trichoepithelioma, 8l unclassifiable.
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PMID:[Epithelial tumor-like changes, precancerous conditions and skin neoplasms (standardization study)]. 100 15

Subcellular defects of hypomelanosis in tuberous sclerosis (TS) (28 subjects) were compared by light and electron microscopy with oThere forms of congenital circumscribed hypomelanosis that occur in nevus depigmentosus (ND) (8 subjects) and in piebaldism (PB) (4 subjects), respectively. On the light microscopic level in both TS and ND, the population density of functioning melanocytes was normal but each perikaryon was small, and dopa activity was decreased. On the ultrastructural level, the hypomelanotic skin and hair of TS were associated with a decrease in the synthesis, melanization, and size of melanosomes; the decrease in the size of melanosomes resulted in the aggregation of melanosomes (i.e., a melanosome complex) in the keratinocytes in all the specimens examined. In ND, ther were no obvious changes in the size and melanocytes. the hypomelanosis of ND is related to the decreased synthesis and also, perhaps, abnormal transfer of melanosomes. In PB the hypomelanosis of the skin and hair results from the absence of functional melanocytes. The hypermelanotic areas of PB, however, characteristically contain melanocytes that synthesize abnormal (sperical and granular) as well as normal (ellipsoidal and lamellar) melanosomes.
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PMID:Congenital circumscribed hypomelanosis: a characterization based on electron microscopic study of tuberous sclerosis, nevus depigmentosus, and piebaldism. 111 Mar 5

Phacomatosis pigmentovascularis is a rare complex nevus accompanied with various types of developmental abnormalities. We experienced a case of phacomatosis pigmentovascularis with esophageal varices due to hypoplasia of the portal veins. Although computed tomography demonstrated marked atrophy of the right hepatic lobe and compensatory hypertrophy of the left hepatic lobe, laparoscopy revealed no signs of chronic parenchymal liver disease on the liver surface. In addition, no microscopically identifiable pathological findings were observed in the needle-biopsied liver specimens. Angiographic study revealed vascular hypoplasia not only in the portal veins of the right hepatic lobe but also in bilateral iliac veins. To our knowledge, this is the first case of phacomatosis pigmentovascularis accompanied with vascular hypoplasia in the portal veins as well as in systemic veins. It is suggested that the disorders associated with mesodermal developmental abnormalities (e.g. phacomatosis pigmentovascularis, Klippel-Trenaunay-Weber syndrome) may be complicated with developmental vascular abnormalities in the portal veins.
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PMID:A case of phacomatosis pigmentovascularis accompanied with esophageal varices due to hypoplasia of the portal veins. 152 36

We examined alpha-actin and an angiogenic factor, basic fibroblast growth factor (bFGF), by immunohistochemistry and Western blot analysis in four angiofibromas (AFs) and a connective tissue nevus (CTN) obtained from two patients with tuberous sclerosis (TS). There was an increase of alpha-actin-positive microvessels in the papillary and the upper reticular dermis of AFs and a CTN as compared to those in normal skin. The main localization of alpha-actin in the microvessels of AFs was considered to be pericytes. Many microvessels and a few interstitial fibroblast-like cells in frozen sections of AFs and a CTN were positively stained for bFGF, and most of the bFGF-positive microvessels corresponded to those containing alpha-actin as determined by double immunostaining. These data suggested a possible role of increased bFGF in stimulating angiogenesis and/or mainitaining vessels in AFs, although augmentation of mitotic activity was not noted by staining with Ki-67. Further investigations on the identification of the bFGF-producing cells and biological function of bFGF in AFs may be a clue to elucidate pathomechanisms of AFs.
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PMID:[Increase in alpha-actin and basic fibroblast growth factor in angiofibromas in patients with tuberous sclerosis]. 165 17

A 22-year old patient with Jadassohn's naevus phacomatosis affecting the right side of the head, face and brain is reported. Besides naevus linearis on the forehead, lipomata of the right palpebra, skin and palate, 2 odontomata, hypodermal and submucosal hyperplasia of the right half of the oral cavity, a small aneurysm of the internal carotid artery in the cavernous sinus and linear calcification in the cortex of the medial surface of the occipital lobe like those in Sturge-Weber disease were found. Clinically, she was found to be mentally retarded (moderately) and having epilepsy. Epileptic attacks occurred up to the age of 13 years, while changes in EEG are still present.
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PMID:[A case of epidermal nevus (Jadassohn's phacomatosis) with changes in the nervous system]. 180 60


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