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PubMedDate not supplied

Genetic disorders of pigmentation.

More than 127 loci are actually known to affect pigmentation in mouse when they are mutated. From embryogenesis to transfer of melanin to the keratinocytes or melanocytes survival, any defect is able to alter the pigmentation process. Many gene mutations are now described, but the function of their product protein and their implication in melanogenesis are only partially understood. Each genetic pigmentation disorder brings new clues in the understanding of the pigmentation process. According to the main genodermatoses known to induce hypo- or hyperpigmentation, we emphasize in this review the last advances in the understanding of the physiopathology of these diseases and try to connect, when possible, the mutation to the clinical phenotype.

Adolescent↗
PubMed1996

Common disorders of pigmentation: when are more than cosmetic cover-ups required?

The many types of pigmentation disorders may present in diverse forms and distributions and have various causes. They can be inherited (eg, vitiligo, familial periorbital hyperpigmentation), acquired (eg, postinflammatory pityriasis alba, idiopathic guttate hypomelanosis, Becker's nevus, melasma), infectious (eg, tinea versicolor), benign and self-limiting (eg, isolated café au lait spots, photocontact dermatitis), or a sign of more serious underlying disease (eg, multiple café au lait spots, malignant acanthosis nigricans). Primary care physicians see many patients with skin complaints and can often accomplish the early recognition and appropriate treatment that is paramount to cost-effective medicine. In many cases, an important aspect of patient care is education toward realistic expectations, because even with referral and use of extensive treatment, cosmetic results may be disappointing. Assuring patients that the disorder is not dangerous and providing tips on sunscreen and cosmetic use may be the best approach in some cases.

Humans↗
PubMed1998

[A descriptive study of pediatric dermatologic diseases diagnosed at the Manises Health Center over 1 year].

OBJECTIVE: To determine the frequency and types of paediatric dermatological pathologies diagnosed at a Primary Care Centre, and the referrals for them to specialists. DESIGN: Descriptive study. SETTING: Primary Care Paediatrics clinic at the Manises Health Centre, Valencia. PATIENTS: Children under 14 attending the clinic during 1995. MEASUREMENTS AND RESULTS: The diagnostic groups were: skin infections, Dermatitis-Eczema, Urticaria-Erythema, Zoonosis, hair and nail disorders, pigmentation disorders and miscellaneous. Age groups were: under one, from 1 to 4, from 5 to 9 and from 10 to 13. Referrals were to the Specialist Centre and to the hospital. There were 1309 first dermatological consultations (5.91% if all paediatric consultations). 38.20% were for skin infections; 25.67% for Dermatitis; 17.11% for Urticarias; 8.33% for Zoonosis; 4.89% for disorders of hair and nail; 1.83% for pigmentation disorders; and the remaining 3.97% miscellaneous. 160 (12.22%) were referred to specialists. CONCLUSIONS: There is a great deal of dermatological pathology in non-hospital paediatric clinics. Over 90% of this pathology is in one of the first five groups above.

Adolescent↗
PubMed2006

Pigmented nail disorders.

Nail pigmentation is defined by the presence of melanin in the nail plate. It most frequently has the appearance of a longitudinal pigmented band, called longitudinal mel-anonychia (LM). LM is an important aspect of ungual pathology because it can be the first sign of nail apparatus melanoma. The aim of this article is to help distinguish those types of melanonychia that are worrisome and should lead to biopsy from those that are reasonably reassuring and need only be followed clinically. Histology, differential diagnosis, and biopsy techniques also are considered.

Humans↗
PubMed2003

Cafe au lait has hue of its own.

Segmental pigmentation disorder is a pigmentation disorder (hypo- or hyperpigmentation) first described some 20 years ago. It appears early in life, is segmental, and usually has a sharp border in the midline. It can be confused clinically and histologically with several pigmentary disorders, especially with giant or segmental cafe-au-lait macules. The purpose of this article is to promote, revive, and refresh this somewhat neglected entity, and to further subdivide it into two types: segmental pigmentation disorder simplex and segmental cafe-au-lait. We illustrate our contention with case reports.

Adult↗
PubMed1999

Multi-organellar disorders of pigmentation: intracellular traffic jams in mammals, flies and yeast.

Several different mutant genes in humans, mice and Drosophila, most of which were identified initially on the basis of reduced pigmentation, have been associated with defects of multiple cytoplasmic organelles - melanosomes, lysosomes and granules. Recent discoveries show that several of these mutations directly affect components in the pathway of organelle-specific protein trafficking, and provide new insights into the relationships of these pathways in mammals, flies and yeast.

Animals↗