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At least 19 recordsLinked to original sources

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

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

[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

Ampyrone is a direct agonist of human tyrosinase and a potential therapeutic for hypopigmentation disorders.

Significant loss of pigmentation can increase visual disability, skin cancer risk, and psychosocial stress. Tyrosinase (TYR) catalyzes the first and rate-limiting step of melanin synthesis. Inhibitors of TYR are well established and are currently used in clinical settings; however, there is a dearth of direct activators of TYR. Here, using a human TYR construct, we developed high-throughput screening methods, in cell confirmatory assays employing 13C-tyrosine tracing, and computational analysis techniques, and identified ampyrone (4-aminoantipyrine) as a TYR activator. Ampyrone increased the in vitro catalytic activity of the human recombinant intramelanosomal domain of TYR (hTYR) and its hypomorphic variant, Pro406Leu (P406L), a cause of oculocutaneous albinism type 1B (OCA1B). Moreover, ampyrone induced melanin synthesis in both WT and OCA1B human melanocytes, mouse OCA2 melanocytes, as well as 3-dimensional (3D) human skin cultures. Computational studies provided additional insight into the effects of direct TYR agonists on enzyme activity. Our results identify ampyrone as a lead candidate for TYR activation, potentially supporting the development of therapies for patients with genetic and acquired diseases of hypopigmentation.

Humans

Hypopigmentation with punctate keratosis of the palms and soles.

Generalized discrete hypopigmented macules forming a camouflage pattern appeared on the skin of a man. The condition has been present and has not changed since the age of 6 months. Five other members of his family are reported to have the same abnormality. All affected members also have punctate keratosis of the palms and soles. An autosomal dominant pattern of inheritance is suggested.

Adolescent

Hypopigmentation in alopecia mucinosa.

Alopecia mucinosa was found in the hypopigmented skin of two black patients. Alopecia mucinosa should be included in the differential diagnosis of hypopigmented papular skin lesions.

Alopecia

Melanocytic activity in leprosy lesions with special reference to cellular infiltrate.

To assess the correlation, if any, between the clinical hypopigmentation in leprosy affected skin and the inflammatory cellular infiltrate in d rmis, skin tissue sections from the maculo-anaesthetic and tuberculoid lesion of 50 cases were studied with Dopa and H & E stains. The results are indicative of (i) proportionate lack of Dopa oxidase activity in the hypopigmented leprosy lesions in commensuration with the relative degree of clinical hypopigmentation; (ii) cellular infiltrate is not related with the clinical hypopigmentation or dopa oxidase activity.

Child

Salabrasion of tattoos. A correlation of the clinical and histological results.

Twenty-six tattoos were treated by salabrasion. The salt was left on the abraded surface from zero to 24 hours. The percentage of residual pigment varied from 50%, when the salt was removed immediately after salabrasion, to 5%, when the salt was left in place for over 12 hours. When the salt was left on for variable periods, some degree of scarring and hypopigmentation occurred in 79% and in 59% of the tattoos, respectively. When the salt was removed immediately after salabrasion, 29% of the tattoos showed scarring and 29% showed hypopigmentation. Our results show that the best method is to remove the salt immediately after salabrasion, but that this form of therapy should only be done on those lesions where the eventual cosmetic result is not important.

Cicatrix

Fenestrated sheen macular dystrophy. A new autosomal dominant maculopathy.

A new, slowly progressive, autosomal dominant macular dystrophy was found in five patients from three generations of a family, with follow-up for long as 27 years. The mild functional abnormalities of this dystrophy were roughly correlated with age; in the sixth decade of life, paracentral scotomatous areas were noted. The earliest ophthalmoscopic findings were present in a 4-year-old and consisted of a yellowish refractile sheen with red fenestrations within the sensory retina of the macula. By the third decade, an annular zone of hypopigmentation of the retinal pigment epithelium (RPE) appeared around the area of the sheen and progressively enlarged. Surrounding the annular zone of hypopigmentation and at its center was slightly hyperpigmented RPE (bull's-eye lesion). Fluorescein angiography showed no abnormalities in the sensory retina and intact perfusion of choriocapillaris.

Adult

Oculocutaneous albinism associated with Apert's syndrome.

Five of nine patients with Apert's syndrome (acrocephalosyndactyly) showed an associated hypopigmentation of hair, skin, and eyes. The hair color of these five patients ranged from light brown to blond, the skin was pale, and the irides hazel or blue. Iris transillumination and hypopigmentation of the fundus were present and associated with absent or diffuse foveal reflexes. Unlike most forms of classic oculocutaneous albinism, however, there was good visual acuity and no pendular nystagmus. The evidence indicated that the lack of pigmentation associated with the characteristic skeletal anomalies of Apert's syndrome resulted from a disturbance of independent, genetically related, processes occurring at a common point in gestation.

Acrocephalosyndactylia

A malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians).

A case is described which, at birth, had a bizarre pattern of hypopigmentation (incontinentia pigmenti achromians), ectrodactyly involving all four extremities, and unilateral cleft lip and palate. This patient does not have the seizures or other neurological and developmental anomalies previously described as associated with hypopigmentation of Ito. This condition is also clearly different from the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC).

Cleft Lip

Hypomelanosis of Ito (incontinentia pigmenti achromians): a neurocutaneous syndrome.

Hypomelanosis of Ito (incontinentia pigment achromians, systematized achromic nevus) is a cutaneous abnormality consisting of bizarre, patterned, macular hypopigmentation over variable portions of the body surface. Multiple associated defects in other systems occur in a significant precentage of affected individuals. Most commonly, the central nervous system, eye, and musculoskeletal structures are involved. It is suggested that the cutaneous abnormality, which is often detectable at birth or during infancy, may forewarn pediatricians of the possible emergence of defects in other organ systems.

Abnormalities, Multiple

Monobenzylether of hydroquinone. A retrospective study of treatment of 18 vitiligo patients and a review of the literature.

Of 18 severely afffected vitiligo patients who used 20% monobenzylether of hydroquinone (MBEH, Benoquin) as a depigmenting agent, 8 achieved complete depigmentation after 10 months or more of use and 3 dramatic but no complete hypopigmentation. The 3 patients with no results did not use MBEH for more than 4 months. Complications were frequent particularly among those who did well, but only 1 case of contact dermatitis limited therapy. All patients who depigmented fully were very pleased with their results. As depigmentation induced by MBEH is generally irreversible, MBEH use must be reserved for induction of complete depigmentation of severely affected vitiligo patients who cannot or do not choose to repigment and who can accept the permanence of never tanning. The history, histology and mechanism of MBEH depigmentation are discussed.

Adult