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Pigmentary Mosaicism (pigmentary + mosaicism)

Distribution by Scientific Domains
Medical Sciences100%

Selected Abstracts

Pigmentary mosaicism with mosaic chromosome 5p tetrasomy

BRITISH JOURNAL OF DERMATOLOGY, Issue 2 2003
L.K. Hansen
Summary Pigmentary mosaicism with mosaic chromosome 5p tetrasomy is described. A 5-year-old girl had phylloid hyperpigmentation segregated in the midline, and neurological deficits. Chromosome analysis performed on blood lymphocytes was normal, whereas skin fibroblasts from affected skin areas revealed chromosomal mosaicism. [source]

Hypomelanosis of ITO Associated with Precocious Puberty

JOURNAL OF CUTANEOUS PATHOLOGY, Issue 1 2005
B. M. Rutland
Background: There are only two reported cases of hypomelanosis of Ito (HI) associated with precocious puberty. Here we report a third case, and the first one to be autopsied. Design: A 5-year-old female with HI, intractable seizures and mental retardation presented with gray vaginal discharge and bacterial vaginosis. The patient subsequently died from neurologic complications and was autopsied. Results: Post-mortem examination revealed pigmentary mosaicism following the lines of Blaschko and advanced development of vulvar labia, pubic hair, and breast buds. Other significant autopsy findings included conical teeth, patchy alopecia, macrosomia (body weight and height above 95th percentile), and macrocephaly with megalencephaly (brain 1850 g). The uterus and ovaries were unremarkable. Epidermis had decreased melanocytes in hypopigmented areas. Skin fibroblast karyotype was normal. Conclusion: The two previous case reports indicate that the mechanism for precocious puberty in HI may be either biochemical, as in McCune-Albright Syndrome, or independent of GnRH. The mechanism of the precocious puberty in our case is most likely central. [source]

An unusual association of pigmentary mosaicism (hypomelanosis of Ito) with generalized hypertrichosis

CLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 3 2006
S. Khandpur
No abstract is available for this article. [source]