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Cutaneous Manifestations of Inborn Errors of Immunity: Clinical Clues to Immune Disorders. [PDF]

open access: yesMedicina (Kaunas)
Napiorkowska-Baran K   +8 more
europepmc   +1 more source
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Partial Albinism

JAMA, 1962
Partial albinism is a rare congenital defect of the skin, in which absence of melanin pigment in various areas is found at birth and is permanent. In contrast to total albinism, it is a genetic dominant, and never involves any organ except the skin. Six members of a Mexican family who have varying degrees of partial albinism have been seen.
B, CAMPBELL, S, SWIFT
openaire   +3 more sources

CONGENITAL PARTIAL ALBINISM

Archives of Dermatology, 1926
Congenital leukoderma is described in all textbooks under the name of partial albinism. The condition consists of achromic patches, irregularly distributed and often symmetrically situated. These patches are milky white, closely resembling those of vitiligo. Congenital leukoderma differs from vitiligo in being present at birth, in being hereditary with
V. Pardo-Castelló
openaire   +2 more sources

Partial albinism with immunodeficiency (Griscelli syndrome)

The Journal of Pediatrics, 1994
Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. To define the phenotype, therapy, and outcome, we retrospectively analyzed seven consecutive patients.
C, Klein   +7 more
openaire   +3 more sources

A syndrome associating partial albinism and immunodeficiency

The American Journal of Medicine, 1978
Two unrelated patients with partial albinism, frequent pyogenic infections and acute episodes of fever, neutropenia and thrombocytopenia are described. Their pigmentary dilution was characterized by large clumps of pigments in the hair shafts and an accumulation of melanosomes in melanocytes.
C, Griscelli   +5 more
openaire   +3 more sources

Partial Albinism and Deaf Mutism

Archives of Dermatology, 1962
Several forms of partial albinism as well as of congenital perceptive deafness are known to be inherited. Conditions in which there is association of the two, like the Waardenburg-Klein syndrome, are associated also with other defects and are inherited as autosomal traits.
L, ZIPRKOWSKI   +4 more
openaire   +3 more sources

Color deformities with partial albinism in moray, Strophidon dorsalis (Seale, 1917): A rare and interesting observation

Bulletin of marine science
This study presents the first documentation of partial albinism in the genus Strophidon, particularly in the species Strophidon dorsalis collected from Indian waters. Remarkably, this study marks the first instance of partial albinism in marine eels.
D. Ray   +3 more
semanticscholar   +1 more source

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