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At least 1,423 records · Page 79Linked to original sources
PubMed1992

[Exogenous ochronosis, a little-known side effect of hydroquinone-containing ointments].

Two patients with exogenous ochronosis, an unfamiliar side effect of hydroquinone-containing bleaching creams, are presented. This disorder is characterized by progressive darkening of the area to which the cream is applied. Histologically there is deposition of yellow-brown pigment in the dermis, in addition to degeneration of collagen and elastic fibres. The chemical composition of the ochronotic material and the pathogenesis of this paradoxical effect of hydroquinone are unknown. Hydroquinone containing creams should not be used for longer than two years. If there is no improvement within six months, application should be discontinued.

Adult↗
PubMed1999

Hypomelanosis of Ito: no entity, but a cutaneous sign of mosaicism.

Hypomelanosis of Ito is a neurocutaneous phenotype comprising pigmentary anomalies, neurological defects, structural malformations, and chromosomal abnormalities. It has been described as a distinct multisystem birth defect or, more specifically, as a neurocutaneous syndrome. The main purpose of this study is to provide evidence that this disorder does not exist as a syndrome. Rather, it is a causally nonspecific pigmentary disorder caused by genetic mosaicism.

Diagnosis, Differential↗
PubMed1997

Psychiatric, neuropediatric, and neuropsychological symptoms in a case of hypomelanosis of Ito.

This case report presents a thirteen year-old boy who was diagnosed as having Hypomelanosis of Ito. The developmental history includes severe failure to thrive, and moderate atypical autism as well as diverse clinical and neuropsychological symptoms are present. The pattern of neuropsychological functioning, which can be partially related to the neurophysiological findings, is discussed within the context of existing neuropsychological theories about autistic disorders.

Adolescent↗
PubMed1994

Hypomelanosis of Ito: a description, not a diagnosis.

The term hypomelanosis of Ito has been used as a diagnosis for individuals with hypopigmentation or depigmentation distributed along the lines of Blaschko. Approximately half of these patients have had neurologic, skeletal, and/or ocular abnormalities. In many, determination that the lighter areas of skin were hypopigmented rather than the darker areas hyperpigmented has been arbitrary. Evidence documenting single-gene transmission is unconvincing and recurrence risks appear to be negligible in most instances. Karyotyping of blood lymphocytes, skin fibroblasts, and/or keratinocytes of 115 individuals reported in the literature revealed abnormal chromosome constitutions in 60. Three patients were 46,XX/46,XY chimeras, two were 46XX/46,XX chimeras. Most patients were mosaic for aneuploidy or unbalanced translocations, with two or more chromosomally distinct cell lines either within the same tissue or between tissues. The more common alterations included mosaic trisomy 18, diploidy/triploidy, mosaicism for sex chromosome aneuploidy, and tetrasomy 12p. Karyotyping of blood and, if necessary, skin, to detect mosaicism is warranted in all patients presenting with swirley pigmentary changes, either hyperpigmentation or hypopigmentation. The terms hypomelanosis of Ito and incontinentia pigmenti achromians should be abandoned as they are neither diagnostic or specific.

Adolescent↗
PubMed1992

Hypomelanosis of Ito: diagnostic criteria and report of 41 cases.

We conducted a 20-year prospective review of 41 pediatric patients with a diagnosis of hypomelanosis of Ito. No evidence pointed to hereditary transmission of the disease. Associated extracutaneous pathology was mainly of the nervous and musculoskeletal systems. Three of 19 patients had chromosomal anomalies. Hypomelanosis of Ito is a clinically well-characterized syndrome in which chromosomal instability may be a component. Criteria for its presumptive and definitive diagnosis are proposed.

Abnormalities, Multiple↗
PubMed2006

Novel compound heterozygous mutation of the MC2R gene in a patient with familial glucocorticoid deficiency.

Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterised by glucocorticoid insufficiency without mineralocorticoid deficiency. Here, we report a 2 year-old girl with FGD, showing tall stature and skin pigmentation, but no abnormalities of the external genitalia. Serum sodium, potassium and chloride levels were within normal ranges. Endocrinological analysis revealed low serum cortisol (<5.5 nmol/1), elevated plasma ACTH (875.2 pmol/1) and low 17alpha-hydroxyprogesterone (< 0.303 nmol/l). We suspected the patient of having FGD type 1. Direct and allele-specific sequence analyses of the melanocortin 2 receptor gene (MC2R) revealed compound heterozygous mutations (C21Y and R146H) in the MC2R gene. Her father and mother each had heterozygous C21Y and R146H mutations, respectively, without symptoms of glucocorticoid deficiency. This is the first report of FGD associated with a compound heterozygous mutation of C21Y and R146H in the MC2R gene.

Alleles↗
PubMed1991

Azelaic acid. A review of its pharmacological properties and therapeutic efficacy in acne and hyperpigmentary skin disorders.

Azelaic acid is a naturally occurring saturated dicarboxylic acid which, on topical application (usually as a 20% cream), has been shown to be effective in the treatment of comedonal acne and inflammatory (papulopustular, nodular and nodulocystic) acne, as well as various cutaneous hyperpigmentary disorders characterised by hyperactive/abnormal melanocyte function, including melasma and, possibly, lentigo maligna. In addition, azelaic acid has an antiproliferative and cytotoxic effect on the human malignant melanocyte, and preliminary findings indicate that it may arrest the progression of cutaneous malignant melanoma. The mechanism of this selective cytotoxic action of azelaic acid is unclear, but may possibly be related to its inhibition of mitochondrial oxidoreductase activity and DNA synthesis. In controlled studies, topical azelaic acid demonstrated comparable anti-acne efficacy to topical tretinoin, benzoyl peroxide, erythromycin and oral tetracycline, while in patients with melasma azelaic acid proved at least as effective as topical hydroquinone. On topical application azelaic acid is well tolerated, with adverse effects apparently limited to a generally mild and transient local cutaneous irritation. Thus, topical azelaic acid, employed either as monotherapy or in combination with other treatments, is likely to prove of value in the management of acne and several hyperpigmentary disorders, most notably melasma.

Acne Vulgaris↗
PubMed1976

Neurofibromatosis in childhood: a review of 25 cases.

The initial symptoms and signs of neurofibromatosis in 25 children are reported, and the literature is briefly reviewed. Two little known associations of neurofibromatosis are revealed. Four children showed hydrocephalus related to stricture of the aqueduct of Sylvius. Four other children presented with failure to thrive in infancy which was regarded in retrospect as a non-specific association of neurofibromatosis. It is emphasized that such manifestations may be the presenting features of neurofibromatosis in children.

Brain Neoplasms↗
PubMed1986

[Incontinentia pigmenti. Study of 3 families].

Ten cases of incontinentia pigmenti are reported. All patients, corresponding to three families, were female. In one case a Turner's syndrome phenotype (XO) with mosaicism 46 XX/46 X; i (Xq) was observed. This finding seems to confirm that the disease is transmitted through a dominant gene carried on the X chromosome. Dental alterations were the most frequent of associated abnormalities, being present in all 10 patients. We regard these abnormalities as important as they permit a retrospective diagnosis in adult patients after the skin lesions have disappeared. EEG alterations (essentially an increase in the slow component) were also observed in the majority of cases.

Adolescent↗