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PubMed2003

Ethnic skin disorders overview.

With the changing demographics of the US population, there is a need to understand the variety of dermatologic disorders that manifest in ethnic groups of non-Caucasian skin types. This article provides a review of presentations and current treatments of several common dermatologic diagnoses in black, Hispanic, and Asian racial groups and compares them with the presentations in Caucasian skin. The specific diagnoses discussed in the different racial groups include acne; pigmentary disorders such as postinflammatory hyperpigmentation and hypopigmentation, vitiligo, and melasma; and photoaging. Because the majority of the world's population already consists of people with pigmented skin and the population within the United States is approximately one-third non-Caucasian, physicians who practice in the field of dermatology today need a thorough understanding of non-Caucasian dermatoses.

Acne Vulgaris↗
PubMed1994

Hypomelanosis of Ito: MR findings.

We present a patient with hypomelanosis of Ito who showed extensive white matter lesions on brain MRI. The finding of no apparent demarcation between gray and white matter may indicate a neuronal migration disorder.

Adult↗
PubMed2006

Mice transgenic for Kit(V620A): recapitulation of piebaldism but not progressive depigmentation seen in humans with this mutation.

Piebaldism is an autosomal dominant genetic pigmentary disorder, characterized by congenital white hair and patches located on the forehead, anterior trunk, and extremities. Most piebald patients have a mutation of the KIT gene, which encodes a tyrosine kinase receptor involved in pigment cell development. The white hair and patches of such patients are already completely formed at birth and do not usually expand thereafter. This stability of pigmented spots also applies to Kit(W) and Kitl(Sl) mutant mice. However, two novel cases of piebaldism were reported in 2001, in which both mother and daughter having a novel Val620Ala mutation in their KIT gene showed progressive depigmentation. To prepare an animal model of this mutation, to explore undefined functions of KIT signaling for maintaining pigmented melanocytes in the skin or more specifically the integrity of the melanocyte stem cell system in the postnatal skin, we produced transgenic mice expressing Val620Ala Kit. These mice well mimicked the white spotting pattern of patients; however, no change in this pattern was observed after birth, even after increasing the transgene expression by various means. Here, we report the unexpectedly extremely stable maintenance of the melanocyte stem cell system under stringent conditions for KIT signaling.

Animals↗
PubMed1987

Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation.

Incontinentia pigmenti (IP) is a genetic disease that is usually lethal in males. We report finding an X;10 translocation in a girl with IP. Three other X/autosome translocations have been observed in females with IP: two involving chromosome 9 and one involving chromosome 17. The breakpoint in all four cases in the X chromosome was in band Xp11. The IP gene locus can therefore be confidently assigned to the X chromosome and, specifically, to band Xp11. The IP gene is most likely to subband Xp11.2. We propose that IP may prove to be a submicroscopic deletion.

Abnormalities, Multiple↗
PubMed1993

Autism and hypomelanosis of Ito in twins.

A pair of monozygotic and a pair of dizygotic twins with autism and hypomelanosis of Ito skin-abnormalities are described. These observations are further evidence of the frequent association between these two conditions, already demonstrated in the literature, and suggest a possibly higher incidence of single gene associations among cases of autism with known genetic basis.

Adolescent↗
PubMed1984

[Ring chromosome 14. II. A case report of r(14) mosaicism. The r(14) phenotype].

Observation of a patient with r(14) mosaicism together along with 18 previously published observations define the syndrome as follows: mental deficiency, seizures, microcephaly (usually), and facial dysmorphism showing a narrow, elongated face, short palpebral fissures, a flat nasal bridge, and retrognathia. A retinal dystrophia which may be specific of the syndrome consists of a hyperpigmentation and, in three patients, yellow-white spots of the macula. The brain shows mild dilation of the lateral ventricles.

Abnormalities, Multiple↗
PubMed2004

Skin lesions in the neonate.

Neonatal skin provides physical protection and assists in fluid balance,immunosurveillance, and thermoregulation; thus, playing a vital role in the newborn's transition from an aqueous to an air-dominant environment. Worried parents often seek medical attention from their child's physician regarding skin lesions. Thus,a working knowledge of both normal and abnormal cutaneous lesions of the neonate is required to properly address these issues. In this article, the authors briefly discuss transient benign lesions,pustular and vesicular infections, "birthmarks" (vascular and pigmentary lesions), common congenital abnormalities, select blistering disorders, and various other skin conditions.

Hemangioma↗
PubMed1986

Psychosocial effect of vitiligo: a comparison of vitiligo patients with "normal" control subjects, with psoriasis patients, and with patients with other pigmentary disorders.

To ascertain the psychosocial effects of vitiligo, patients with vitiligo were compared with control subjects without skin diseases who were matched for age, sex, race, educational level, and marital status. Vitiligo patients were also compared with a matched sample of psoriasis patients and a matched sample of patients with other pigmentary disorders involving discoloration. The vitiligo patients scored lower on the Coopersmith Self-Esteem Inventory than did the "normal" control subjects. Vitiligo patients exhibited better adjustment to their disorder and experienced less social discrimination than did psoriasis patients, although the two groups did not differ on overall self-esteem. Patients with vitiligo did not differ significantly from those with other pigmentary disorders on any measure.

Adaptation, Psychological↗