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At least 1,477 records · Page 82Linked to original sources
PubMed1997

Dyschromatosis universalis hereditaria: an electron microscopic examination.

We report electron microscopic findings from both hyperchromic and achromic macules of dyschromatosis universalis hereditaria (DUH). The keratinocytes of the hyperchromic macules contained numerous, fully melanized melanosomes; almost all of them were aggregated to form the melanosome complex. In contrast, the melanosomes were absent from both keratinocytes and melanocytes of achromic macules, even though intact melanocytes were found. Our results suggest that DUH may be a disorder of melanosome production and distribution in epidermal melanin units rather than a a disorder of melanocyte number.

Aged↗
PubMed1985

Histologic changes resembling the verrucous phase of incontinentia pigmenti within epidermal nevi: report of two cases.

A wide spectrum of histopathologic changes has been reported to occur within epidermal nevi. We saw two patients with warty nevoid lesions in which histopathologic features of incontinentia pigmenti, verrucous phase, were present. The diagnosis of incontinentia pigmenti was excluded because both patients were male, lacked a preceding vesicular stage, and did not demonstrate other features of the disorder.

Child, Preschool↗
PubMed1987

[Incontinentia pigmenti as the leading symptom].

It is reported on four girls aged 8 to 20 with Incontinentia pigmenti (Ip) The ectodermal dysplasia was associated with oligophrenia, therapy resistant epilepsy with severe psychorganic syndromes and dementia, Lennox syndrome, lability of emotion with severe disorders of social adaptations, spasticity, hypo- and areflexia, hemiathetosis, choreiform unrest, pathological EEG findings, including spike-potentials; relations to cleidocranial dysostosis, dysraphia, Poland's, Greig's and Chotzen's syndrome were found. Ip means unfavourable prognosis and progression of neuropsychiatric disorders.

Abnormalities, Multiple↗
PubMed1979

Striato-nigral astrocytic melanization.

Abnormal pigmentation was found in the striatum, pallidum and substantia nigra of two unrelated patients. Both had suffered from debilitating joint disease; there was no evidence of a progressive neurologic disorder. The pigment was localized in astrocytes and had the histochemical and electron microscopic features of melanin. The tissue changes suggest an anomaly of catecholamine metabolism either endogenous or induced by a still unknown exogenous factor.

Aged↗
PubMed2003

[Physiological skin changes during pregnancy].

A NATURAL PHENOMENON: Pregnancy is a period of hormone, immunological, metabolic and vascular changes. Modifications of the skin, mucosa and integuments are therefore physiological. The modifications are in pigmentation, but also affect nevi, the connective tissue, vessels and appendices. Modifications in pigmentation exist in more than 9 pregnancies out of 10 in the form of local melanosis. Melasma, also know as the 'pregnancy mask' or chloasma, is fairly rare. These disorders in pigmentation are also observed in black-skinned women. Changes in nevi (darker brown colour, increase in size) occur in around 15% of pregnancies. MODIFICATIONS IN CONNECTIVE TISSUE: Characterised by vergetures, affecting 60 to 90% of women, appear between the 6th and 8th month of pregnancy and for which there is no satisfactory treatment. Vascular modifications are generally proliferative and due to estrogen impregnation that affects the arteriolar and venous systems. Stellar angiomas are present in 50 to 70% of Caucasian women. Bilateral palmar erythema may also be associated with these angiomas. Varicose veins and varicosities of the lower limbs induced by excessive venous pressure are frequent, as well as oedema (salt-water retention, increased capillary permeability). MODIFICATIONS IN THE APPENDICES: These concern the activity of the sweat glands, the size of the sebaceous glands (Montgomery tubercles), the nails and hair growth.

Connective Tissue Diseases↗
PubMed1981

Hypomelanosis of Ito. Report of a case and review of the literature.

A 5-month-old boy with hypomelanosis of Ito was studied. Lesions presented as bizarre, hypopigmented whorls and streaks. Histologic studies showed that the hypopigmented areas contained normal melanocytes with decreased content of intracellular melanin. A review of the literature revealed the disease to be a discrete entity of hypopigmentation associated with a high percentage of central nervous system abnormalities, particularly seizure disorders and mental retardation.

Child↗
PubMed1978

E.N.T. manifestations of Von Recklinghausen's disease.

Von Recklinghausen's Disease (VRD) is a neurocutaneous, systemic disease characterized by CNS tumors and disorders, cafe-au-lait spots, generalized cutaneous neurofibromata, skeletal deformities, and somatic and endocrine abnormalities. It is an autosomal dominant, hereditary disorder found in approximately 1:2500 to 3300 births. There are many manifestations of this disease in the head and neck region of interest to the otolaryngologist. Case reports of three patients with multiple ENT involvements are detailed. A review of the literature is presented with a brief discussion of diagnosis and treatment. The most common intracranial tumor in the adult is the acoustic neuroma, usually bilateral, while in the child it is the astrocytoma. A defect in the sphenoid bone is common and may produce temporal lobe herniation into the orbit causing pulsatile exophthalmos. Involvement of the facial bones usually causes radiolucent defects secondary to neurofibromata within nerve pathways, and a variety of asymmetrical changes, especially within the mandible. "Elephantiasis" of the face is a hypertrophy of the soft tissues overlying a neurofibroma, often quite extensive and disfiguring. Laryngeal and neck involvement may compromise the airway and early and repeated surgical intervention is required. The over-all malignancy rate approaches 30%, indicating that the patient with VRD may be predisposed to developing a malignancy. There appears to be an increased surgical risk in these patients, with some demonstrating abnormal responses to neuromuscular blockade.

Adult↗
PubMed1975

Leukodystrophy, skin hyperpigmentation, and adrenal atrophy: Siemerling-Creutzfeldt disease. Transmission through several generations in two families.

Two apparently unrelated families with a history of leukodystrophy associated with adrenal insufficiency are presented. Only about 20 cases of this syndrome have been reported until now. It was first described by Siemerling and Creutzfeldt; therefore we propose the designation Siemerling-Creutzfeldt disease. Our pedigrees include 15 additional cases and prove that this disease is inherited as an X-linked or as an autosomal dominant trait with male sex limitation. Within these families, the interindividual variability of clinical signs is remarkable. Patients can survive into the fifth decade, and one has reproduced. Attempts to identify heterozygotes on the basis of endocrinologic investigations were unsuccessful.

Adrenal Cortex Hormones↗