Cases reported "Pigmentation Disorders"

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1/17. Pigmentary mosaicism of the hyperpigmented type in two half-brothers.

    Pigmentary mosaicism is a heterogeneous cutaneous phenotype that is often associated with extracutaneous anomalies. It is widely accepted that these phenotypes arise de novo as a result of a postzygotic mutation, leading to a mosaic status of the embryo. In the vast majority of cases, the occurrence of pigmentary mosaicism is sporadic. We report two paternal half-brothers affected with pigmentary mosaicism of the hyperpigmented type. The hyperpigmentation in both patients is distributed along the lines of Blaschko. In addition, mental retardation, facial asymmetry, short stature, scoliosis, and short fingers with clinodactyly of the 5th digit were noted in one of them. Chromosome analysis in this 15-year-old patient demonstrated a mosaic 46,XY,dup(3)(p21.3;pter)/46,XY with 12% aberrant cells in lymphocytes and 2% in skin fibroblasts derived from a hyperpigmented area. His nine-year-old half-brother had similar systematized hyperpigmented skin lesions, macrocephaly, facial asymmetry, and clinodactyly of the 5th digit. Chromosome analysis of peripheral lymphocytes showed a normal karyotype 46,XY. A skin biopsy could not be obtained. So far, some familial cases of hypopigmentation along the lines of Blaschko have been reported, but familial occurrence of the hyperpigmented type of pigmentary mosaicism appears to be extremely unusual. It is difficult to establish a causal relationship with the chromosomal mosaicism as observed in patient 1. Paradominant transmission seems unlikely because this would likewise imply that the chromosomal mosaicism is an incidental finding.
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2/17. minocycline hyperpigmentation: model for in situ phagocytic activity of factor xiiia positive dermal dendrocytes.

    Pigmentary disorders resulting from the prolonged use of the semisynthetic tetracycline derivative antibiotic, minocycline, are rare but well recognized sequelae of ingestion of this drug. We present two cases of women with bullous pemphigoid who developed blue-black pigmentation in areas of scarring on the legs after oral minocycline therapy. On histologic examination, the deposited pigment was localized within dendritic cells limited to the upper dermis. Immunohistochemical analysis revealed these cells to be factor xiiia positive dermal dendrocytes which was confirmed by transmission electron microscopy. We believe these cases demonstrate, in-situ, the phagocytic capabilities of this recently described cell population.
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3/17. Autosomal dominant transmission of the NAME syndrome (nevi, atrial myxoma, mucinosis of the skin and endocrine overactivity).

    A family affected in two generations with the NAME syndrome is described, and the literature on this phenotype reviewed. The term "NAME" was originally proposed as an acronym for "nevi, atrial myxoma, myxoid neurofibromata and ephelides". However, in order to give a more comprehensive description of this syndrome, we recommend the following alternative interpretation of "NAME": nevi, atrial myxoma, mucinosis of the skin, endocrine overactivity. Previous family observations suggested a dominant, and probably autosomal, inheritance but an X-linked dominant transmission could not be excluded. We describe male-to-male transmission, strongly supporting the concept of the autosomal inheritance of this trait.
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4/17. iris melanocytes on the posterior corneal surface in congenital glaucoma. A clinicopathological case report.

    The histological and ultrastructural pathology of two corneas that were removed from an infant with congenital glaucoma prior to keratoplasty is described. Clinically, the glaucoma was suspected to be due to an inapparent congenital viral infection, although there was no serological proof. Macroscopic and light microscopic examination of the posterior corneal surface revealed an irregular network of heavily pigmented cells that were overlying an incomplete endothelium and a grossly thickened Descemet's membrane. By scanning and transmission electron microscopy, these melanin-laden cells exhibited the features of iris stromal melanocytes. No evidence of viral infection could be found. The possible mechanisms leading to this unusual morphology are considered and will be discussed in relation to current theories on the etiology of congenital glaucoma.
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5/17. A clinicopathologic study of the eyes in familial adenomatous polyposis with extracolonic manifestations (Gardner's syndrome).

    The eyes of a 51-year-old woman with familial adenomatous polyposis and extracolonic manifestations (Gardner's syndrome) were obtained postmortem and studied by light microscopy and by transmission and scanning electron microscopy. We found a generalized abnormality in melanogenesis of the retinal pigment epithelium and at least three types of pigmented lesions. The histologic findings in one type of lesion were consistent with congenital hypertrophy of the retinal pigment epithelium or benign pigmented nevus of the retinal pigment epithelium. The other two types of lesion were most consistent with hamartomatous malformations of the retinal pigment epithelium featuring cellular hypertrophy, hyperplasia, and rarely retinal invasion and formation of a minute mushroom-shaped tumor. These histopathologic findings indicate a generalized effect of the familial adenomatous polyposis gene on the retinal pigment epithelium. This oncogene, which is responsible for tumor formation in the gastrointestinal tract, soft tissues, bone, and other locations in patients with familial adenomatous polyposis, also leads to a generalized defect in melanogenesis and focal lesions of the retinal pigment epithelium.
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6/17. incontinentia pigmenti in a male infant with klinefelter syndrome.

    incontinentia pigmenti is a familial disorder affecting tissues derived from neuroectoderm. Statistical analysis of reported pedigrees is consistent with transmission of incontinentia pigmenti by an X-linked dominant gene with male hemizygote lethality. This report describes a male infant with the classic clinical features of this condition and a 47,XXY chromosomal constitution. These findings support the concept that incontinentia pigmenti is an X-linked dominant disorder. This case illustrates the importance of a full genetic investigation in all males with physical findings suggestive of an X-linked dominant disorder lethal in males.
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7/17. Chrysiasis: the role of sun exposure in dermal hyperpigmentation secondary to gold therapy.

    To investigate the role of sun exposure in the pathophysiology of chrysiasis, we studied 10 Caucasian female patients with rheumatoid arthritis: 4 with clinically apparent chrysiasis and 6 without apparent pigmentation. Three patients without chrysiasis had received over 4 g of gold and 3 less than one g. The mean melanin score, determined by histological examination of sun exposed and nonsun exposed skin, was significantly higher in the sun exposed skin of the chrysiasis and high dose controls than low dose controls (p less than .05). Concentration of gold measured semiquantitatively by transmission electron microscopy and quantitatively by atomic absorption showed increased gold concentration in sun exposed when compared to nonsun exposed skin of chrysiasis and high dose controls (p = .26). Low dose controls had no gold demonstrated by either method. Our results suggest that gold deposition in the dermis stimulates melain production and that melanin is important in hyperpigmentation of chrysiasis. Furthermore ultraviolet light may induce preferential uptake of gold by the skin.
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8/17. incontinentia pigmenti (Bloch-Sulzberger syndrome): seven case reports from one family.

    Seven members from a large family who showed signs of incontinentia pigmenti were examined. A clear X-linked dominant transmission was demonstrated, lethal in males. Study of this family shows that vascular abnormalities of the retina and disorders of the retinal pigment epithelium are the most important ocular lesions in the Bloch-Sulzberger syndrome.
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9/17. Chrysiasis: transmission electron microscopy, laser microprobe mass spectrometry and epipolarized light as adjuncts to diagnosis.

    Two patients receiving gold therapy for rheumatoid arthritis developed skin pigmentation, chrysiasis, which in one appeared 4 months after cessation of the therapy. The diagnosis was confirmed by transmission electron microscopy and mass spectrometry laser microprobe analysis of paraffin sections and its extent demonstrated by epipolarized light. The condition is poorly reported and clinically may be confused with silver and mercury impregnation. Tissue diagnosis requires ancillary methods and of these, transmission electron microscopy and laser microprobe mass spectrometry are excellent examples. The transmission electron microscopy findings differ from previous reports and raise doubts on the hypothesis on the role of the skin in gold excretion. Because of the renewed interest in crysotherapy and the latent period that can separate this from chrysiasis, an increase in chrysiasis and the need for its diagnosis can be anticipated.
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keywords = transmission
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10/17. Inheritance and the pigmentary dispersion syndrome.

    The authors studied 33 patients in five families and have found that 14 of these patients fulfill criteria for the pigmentary dispersion syndrome. Affected patients had characteristics associated with the pigmentary dispersion syndrome, which are: peripheral slit-like iris transillumination defects, increased trabecular meshwork pigmentation, Krukenberg spindle, myopia, and elevated intraocular pressure. The authors observed this syndrome to be transmitted in a direct linear manner from parent to sibling in three of the four families. The transmission of this syndrome was found to be independent of refractive error, iris color, and sexual predilection, all of which are presented.
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