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Melanin is the major determinant of skin color in humans. Abnormalities and diseases affecting pigmentation interrupt the production of distribution of melanin. The authors discuss the many diseases of hyper- and hypopigmentation.
Carney complex is an autosomic dominant disorder initially described as the association of cardiac myxomas, spotty skin pigmentation and endocrine overactivity and considered as a multiple neoplasia and lentiginosis syndrome. Mutations in the tumor suppressor gene PRKAR1A, coding for the type 1-alpha regulatory subunit of cAMP-depended protein kinase A have been previously identified in about half of the Carney complex kindreds. In this paper we report identification of the molecular defect in PRKARIA gene in two Carney complex patients. A new mutation (403delAC) located in a 3rd exon of PRKARIA gene has been observed in one case, and a previously described mutation in exon 7 (847delTC) in the second case.
Hypomelanosis of Ito appears to be a disorder of hypopigmentation. Findings from histochemical and electronmicroscopic studies indicate that pigment cells from the hypopigmented areas have short dendrites and synthesize less than normal amounts of melanin. The syndrome may have two forms; a cutaneous and neurocutaneous variety. In the more severe neurocutaneous variety, the phenotypic pigmentary abnormalities probably reflect a biochemical defect in all tissues derived from the neuro-ectodermal anlage.
Visual assessment remains one of the "gold standard" methods of assessing skin color and a number of tools are currently available to reduce the interobserver variability. Ultraviolet light examination remains a mainstay of the assessment of pigmentary disorders, while polarized light photography is useful for the appraisal of dermal changes, in particular those related to vascularity. With the introduction of modern instruments, reflectance spectroscopy using tristimulus colorimeters or narrowband spectrophotometers provides a convenient, objective, and reproducible methodology for the evaluation of pigmentation and skin color. In vivo confocal scanning laser microscopy is a powerful technique for the examination of pigmented lesions, which shows promise in the detection and diagnosis of early melanoma. Dermoscopy is also useful for the differential diagnosis of benign melanocytic lesions and melanoma, and its use has been shown to significantly improve diagnostic accuracy.
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BACKGROUND: Effective treatment of poikiloderma of Civatte combines elimination of both the vascular and pigmented components simultaneously. A broad spectrum, noncoherent, intense pulsed light (IPL) source delivers multiple wavelengths with software controlled pulse durations and sequencing, which permits treatment of both vascular and pigmented lesions simultaneously. OBJECTIVE: To determine response and side effects of poikiloderma of Civatte of the neck and chest when treated by IPL. METHODS: One hundred and thirty-five patients randomly selected with typical changes of poikiloderma of Civatte on the neck and/or upper chest were treated with one to five treatments using IPL. RESULTS: Clearance of more than 75% of telangiectasias and hyperpigmentation comprising poikiloderma was observed. The incidence of side effects was 5%, including pigment changes. In many cases, improved skin texture was noted both by physician and patient. CONCLUSION: IPL is an effective mode of therapy for poikiloderma of Civatte. It offers a reduction of pigment and telangiectasias with a low risk profile. Additional benefits include subjective changes of improvement in skin texture.
BACKGROUND: The treatment of striae distensae has recently been reported with various lasers such as the 585-nm pulsed dye laser. At lower fluences (2.0 to 4.0 J/cm2), this laser has been purported to increase the amount of collagen in the extracellular matrix. OBJECTIVE: To determine whether the 585-nm pulsed dye laser is effective in both striae rubra and striae alba after two treatments and, in addition, to determine whether there is a net effect on collagen density in treated samples. METHODS: Twenty patients (skin types II to VI) with either striae rubra (9) or striae alba (11) were treated at baseline and at week 6. The total length of the study was 12 weeks. Untreated striae on the same patient were used as control subjects. Striae clinical parameters such as color and area were measured before the first and after the last treatment by an independent examiner using a visual analog scale. A hydroxyproline assay was used to measure collagen changes in two of the striae quantitatively. RESULTS: The 585 nm had a moderate beneficial effect in reducing the degree of erythema in striae rubra. There was no apparent clinical change on striae alba. Total collagen per gram of dry weight of sampled tissue increased in striae treated with pulsed dye laser versus control subjects. CONCLUSION: We recommend the use of the 585-nm pulsed dye laser for striae rubra in patients skin types II to IV. Extreme caution or avoidance should be observed in pulsed dye laser treatments for patients with phototypes V to VI even with the use of low fluences. Tissue collagen changes measured may be an early change, which precedes significant clinical improvement.
Several clinical disorders combine ectodermal dysplasia (ED) and cleft lip and/or palate (CL/P). These conditions have been recognized as a group of diseases with a narrow phenotypic spectrum and multiple points of overlap. We report a patient with a clinical diagnosis of AEC syndrome (ankyloblepharon, ectodermal defects, and CL/P) who additionally has some features observed in a different ED-CL/P disorder, Bowen-Armstrong syndrome. Because of this clinical overlap, we suggest that AEC syndrome and Bowen-Armstrong syndrome may be variable manifestations of the same pathologic entity.
Patients with oculocutaneous or ocular albinism have misrouting of optic fibers, with fibers from 20 degrees or more of the temporal retina crossing at the chiasm instead of projecting to the ipsilateral hemisphere. Misrouting can result in strabismus and nystagmus. Because patients with the Prader-Willi syndrome may also have hypopigmentation and strabismus, we wondered whether they too might have misrouting of optic fibers. We therefore studied six patients with Prader-Willi syndrome selected for a history of strabismus, using pattern-onset visually evoked potentials with binocular and monocular stimulation to look for evidence of misrouted retinal-ganglion fibers. Four had hypopigmentation, and three of these four had abnormal evoked potentials indistinguishable from those recorded in human albinos. The two with normal pigmentation had normal responses. These findings indicate that patients with Prader-Willi syndrome who have hypopigmentation have a brain abnormality characterized by misrouting of retinal-ganglion fibers at the optic chiasm--a finding previously reported only in forms of albinism.
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Fifty-nine cases with infantile autism/autistic disorder were subclassified according to associated medical condition (fragile-X, tuberous sclerosis, neurofibromatosis, hypo-melanosis of Ito, Moebius syndrome, Rett syndrome, and a 'new' syndrome associated with a marker chromosome). It was concluded that, even within a group of cases fitting currently accepted criteria for autism, there is considerable variation in symptom profile depending on the exact type of associated medical condition.
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