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Results for “Hypopigmentation”

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At least 55 records · Page 3Linked to original sources
PubMed1998

Hereditary external ophthalmoplegia synergistic divergence, jaw winking, and oculocutaneous hypopigmentation: a congenital fibrosis syndrome caused by deficient innervation to extraocular muscles.

BACKGROUND: The congenital fibrosis syndrome is a hereditary form of external ophthalmoplegia that is considered to be a primary myopathy. PURPOSE: To document the coexistence of two distinct forms of ocular motor synkinesis in a subgroup of patients with congenital fibrosis syndrome. METHODS: Clinical and intraoperative examination results and extraocular muscle biopsy specimens from four patients with congenital fibrosis syndrome were studied. RESULTS: Three patients displayed a variant of synergistic divergence characterized by simultaneous abduction with intorsion and depression of the synkinetically abducting eye. Three patients had variant of Marcus Gunn jaw winking characterized by elevation of a ptotic eyelid during mouth opening. Three patients had oculocutaneous hypopigmentation. CONCLUSIONS: A subgroup of patients with congenital fibrosis syndrome display two distinct synkinetic ocular movements in conjunction with oculocutaneous hypopigmentation. The patterns of neuronal misdirection implicate a regional innervational disturbance involving cranial nerves III through VI as the underlying cause of diffuse hereditary ophthalmoplegia in these patients.

Adult↗
PubMed1988

Biology of hypopigmentation.

A review of the basics of pigment cell biology is followed by a discussion of the characteristics of several disorders of hypopigmentation. By determining such features as inheritance pattern, time of onset (congenital, childhood, adulthood), natural history (stable vs progressive), type of pigment loss (diffuse or circumscribed), distribution of lesions (generalized vs localized), degree of pigment loss (incomplete or complete), number of melanocytes, if any, in biopsy specimens of affected areas, type of melanocytic dysfunction, and associated inflammation or infection, one can classify the disorders of hypopigmentation. The proposed pathophysiology for each disorder of hypomelanosis is presented.

Humans↗
PubMed1988

Perilesional linear atrophy and hypopigmentation after intralesional corticosteroid therapy. Report of two cases and review of the literature.

We report on the cases of two patients in whom linear perilesional hypopigmentation and atrophy developed after intralesional injection of corticosteroids for treatment of keloids. Evaluation of our patients and the previously reported cases showed that perilesional linear atrophy or hypopigmentation (or both) is a distinct complication after intralesional or intraarticular administration of corticosteroids and is probably due to lymphogenous spread of the steroid suspension.

Atrophy↗
PubMed1979

Pityriasis lichenoides chronica presenting as hypopigmentation.

Seven black or dark skinned patients with pityriasis lichenoides chronica (PLC) are described, who presented with widespread hypopigmentation. The evidence on which a diagnosis of PLC was made is presented and the differential diagnosis discussed. The hypopigmentation was noted in some patients to be especially marked on the proximal parts of the limbs and axillary folds. A diagnosis of PLC should be considered in all dark skinned patients with a widespread hypopigmented rash.

Adolescent↗
PubMed1978

Hypopigmentation at the site of application of a tourniquet.

Hypopigmentation at a site of application of a tourniquet has not to our knowledge been reported in the literature. We are reporting such a case. We have conjectured that this hypopigmentation may be due to temporary anoxia suffered by melanocytes.

Adult↗
PubMed1989

Oculocerebral hypopigmentation syndrome (Cross syndrome) in a Gipsy child.

A boy aged 2 years, born prematurely to Gipsy parents, presented with hypopigmentation severe encephalopathy with athetoid movements, bilateral ocular anomalies including cloudy corneas, iris atrophy and cataracts, as well as dental defects. Ultrastructural examination of the skin disclosed scare melanosomes. Although the neurologic and ocular anomalies might have been accounted for by his extreme prematurity, their association with hypomelanogenesis and dental defects support, in this patient the diagnosis of the oculocerebral hypopigmentation syndrome (Cross syndrome).

Albinism↗
PubMed1987

An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings.

A 4 year old boy is reported with tyrosinase positive hypopigmentation, mental retardation, ataxia, and myopia. Radiological investigation showed occipital cerebral atrophy, coxa valga, and generalised osteoporosis. The skin histology and electron microscopy are reported and discussed. The clinical features are similar to those of the oculocerebral hypopigmentation syndrome described by Preus et al.

Cerebellar Ataxia↗
PubMed1981

Familial spastic paraplegia, peroneal neuropathy, and crural hypopigmentation: a new neurocutaneous syndrome.

A neurocutaneous syndrome is described in which spastic paraplegia, peroneal neuropathy, and crural hypopigmentation are inherited in a dominant pattern. Spastic paraplegia becomes clinically apparent during adolescence or in childhood and progresses slowly throughout the adult years with a variability in severity of expression. Peroneal neuropathy is documented clinically and by slowing on nerve conduction studies. Pattern-reversal visual evoked potentials also yield a delayed response, but brainstem auditory evoked potentials and somatosensory evoked potentials in upper and lower extremities are normal. Crural hypopigmentation is present in each neurologically affected family member. Although the pattern may vary, a pretibial distribution predominates. The lower-extremity abnormalities of the central and peripheral nervous system and neural crest cell derivatives may share a common relationship, but the abnormal visual evoked potentials suggest a more generalized involvement. This family may represent a transition form between familial spastic paraplegia and the spinocerebellar degenerations.

Adult↗
PubMed1988

Chemical and pharmacologic agents that cause hyperpigmentation or hypopigmentation of the skin.

The list of chemicals and drugs that can result in alteration of skin color is slowly growing. Inflammatory processes can lead to either post-inflammatory hyperpigmentation or hypopigmentation. In non-inflammatory situations, chemical deposition can result in hyperpigmentation, whereas chemically induced destruction of melanocytes or their products may result in hypopigmentation.

Humans↗
PubMed1986

Hypopigmented mycosis fungoides. Speculations about the mechanism of hypopigmentation.

Hypopigmented, nonatrophic macules are an unusual manifestation of lesions of early mycosis fungoides. Presented herein is a patient with such lesions and an unusual mask-like hypopigmentation of the face. We review both the clinical and microscopic findings in this patient and in previously reported patients with hypopigmented lesions of mycosis fungoides. Finally, speculation is made as to the mechanisms of the hypopigmentation.

Adult↗
PubMed1977

[Familial oculo-cutaneous hypopigmentation of dominant transmission due to a disorder in melanocyte formation. Association of Prader-Willi syndrome with a chromosome abnormality in one of the subjects involved].

Four members of a Swiss family were affected with oculo-cutaneous hypopigmentation of dominant transmission which differed from the previously described cases of dominant oculo-cutaneous albinism by its ultrastructure. The hypopigmentation described here is characterized by the formation of numerous, but very small, melanosomes. Melanocytic tyrosinase activity was normal in light microscopy. However, on electron microscopy, tyrosinase activity was strong in premelanosomes of stage I only, and decreased rapidly in the later stages. One of the affected members also presented a Prader-Willi syndrome and a chromosomal anomaly, both being probably unrelated to the pigmentary disorder.

Adult↗
PubMed1983

An oculocerebral hypopigmentation syndrome.

An oculocerebral hypopigmentation syndrome consisting of growth retardation, dolichocephaly, cataracts, high arched palate, small, widely spaced teeth, generalized hypopigmentation, psychomotor retardation, progressive neurological manifestations and hypochromic anemia is described in sibs. The finding of parental consanguinity supports autosomal recessive inheritance. The syndrome resembles the Cross syndrome (1,2).

Abnormalities, Multiple↗
PubMed1983

Hypopigmentation in leprosy.

Hypopigmentation of macular leprosy lesions was not found to correlate with cellular infiltrate and AFB load in tissues. It is felt that hypopigmentation is in some way related to neural involvement.

Humans↗
PubMed1996

Confirmation of the Yemenite (Warburg) deaf-blind hypopigmentation syndrome.

The Yemenite deaf-blind hypopigmentation syndrome is a rare disorder characterized by severe early hearing loss, microcornea and colobomata, and cutaneous pigmentation abnormalities. A girl with similar skin symptoms and hearing loss, but no microcornea or colobomata is described and compared to other reported patients.

Child↗
PubMed1996

Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions.

Angelman syndrome (AS) is a relatively frequent disorder of psychomotor development caused by loss of function of a gene from chromosome 15q11-q13, a region subject to genomic imprinting. The AS gene(s) is exclusively expressed from the maternal chromosome. Several kinds of mutations have been found to cause AS. More than half of the cases exhibit a deletion of the maternal 15q11-q13 region. Recently, we and others described a new mutation type, the imprinting mutation, characterised by normal, biparental inheritance but aberrant methylation patterns of the entire chromosomal region. In AS, a paternal imprint is found on the maternal chromosome probably leading to functional inactivation of the AS gene(s). We have now compared the phenotype of 9 AS patients with imprinting mutation to that of nine age-matched ones with a maternally derived deletion. Both groups were evaluated for 19 common AS symptoms. All patients, independently of their molecular findings, showed classical AS symptoms such s mental retardation, delayed motor development, and absent speech. In contrast, for two signs, hypopigmentation and microcephaly, a different distribution among both groups was observed. Only one of nine AS patients with an imprinting mutation, but seven of nine in the deletion control group showed either symptom. Our results suggest that imprinting mutations, in contrast to deletions, cause only incomplete loss of gene function or that maternally derived deletions affect also genes not subject to genomic imprinting. We conclude that AS is caused by loss of function of a major gene that is imprinted but that there are also other genes that contribute to the phenotype when in hemizygous condition.

Albinism, Oculocutaneous↗
PubMed2004

[Excimer laser. Treatment of iatrogenic hypopigmentation following skin resurfacing].

As skin resurfacing has become more common, the number of patients developing post-treatment hypopigmentation has increased. No effective treatment for this complication has been developed. Some hypopigmented disorders, including vitiligo, have been treated with the excimer laser. We used the XeCl excimer laser to successfully treat a 78-year-old woman with perioral leukoderma following CO(2) laser skin resurfacing. The repigmentation was stable for at least 16 months. Larger prospective studies of this new therapeutic intervention are recommended to evaluate its efficacy and long-term stability.

Aged↗
PubMed1998

A case of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation: a new syndrome?

The case of a Japanese girl with a unique combination of congenital malformations is reported. The malformations include craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation that indicated somatic mosaicism of a mutated gene or a submicroscopic chromosomal aberration. The phenotype in our patient overlapped significantly with, but was not completely consistent with, that of ter Haar syndrome, a recently elucidated malformation syndrome with an autosomal recessive trait. The present patient may have represented a previously undescribed malformation syndrome, or an atypical manifestation of ter Haar syndrome due to somatic mosaicism.

Abnormalities, Multiple↗
PubMed1996

Management of hypopigmentation following burn injury.

Hypopigmentation is a troublesome often permanent sequelae following burn injury, particularly in dark races. A number of methods have been described to treat this phenomenon ranging from primary closure, split skin and particulate grafting as well as semipermanent and permanent camouflage. This article reviews the pathophysiology of this condition and discusses the indications for using each technique as well as the potential for future developments in melanocyte culture.

Burns↗