Cases reported "Pigmentation Disorders"

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1/38. Pigmentation and pits at uncommon sites in a case with reticulate acropigmentation of Kitamura.

    Reticulate acropigmentation of Kitamura is now reported from all over the world. Additional features are being readily recognized. Our cases had pigmentation and pits on the dorsa of the distal phalanges of the fingers and toes - the classical features - as well as widely distributed pits on the palms, palmar aspect and sides of the fingers. The involvement in our cases was more pronounced than in the previously reported ones. copyright (R) 2000 S.Karger AG, Basel
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2/38. Alkaptonuric ochronosis presenting as palmoplantar pigmentation.

    We describe a 37-year-old woman who presented with palmoplantar pigmentation, thickening and pitting of 4 years duration. Bluish pigmented patches were seen over the sclera of her eyes. Her lumbar spine showed typical calcification of the intervertebral discs. Addition of Benedict's reagent to a urine sample of the patient gave rise to greenish brown precipitate and brownish black supernatant. Alkalinization of urine turned it black. A biopsy of the palmar lesion demonstrated irregular breaking up, swelling and homogenization of collagen bundles in the reticular dermis. Yellow-brown (ochre coloured) pigment was seen lying within the collagen bundles and also freely in the deeper dermis confirming our clinical diagnosis of alkaptonuric ochronosis. To the best of our knowledge this is probably the second report of alkaptonuria presenting with palmoplantar pigmentation.
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3/38. Reticulate acropigmentation of Kitamura: first case reports from nepal.

    Two young Nepalese females, aged 34 and 17 years, presented with multiple small brown macules in a reticulate pattern on the distal extensor aspects of their limbs. The first patient's daughter also had similar lesions. The second patient had similar lesions on her eyelids and palmar pits as well. The clinical diagnosis of reticulate acropigmentation of Kitamura (RAK) was made in both the patients and was confirmed histopathologically. These are the first case reports of this condition from nepal.
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4/38. Hereditary, focal, transgressive palmoplantar keratoderma with associated clinical findings: a new entity?

    We report on a 24-year-old male originating from yugoslavia with a focal, transgressive palmoplantar keratoderma presumably inherited as an autosomal recessive trait. Associated clinical findings were hyperkeratotic lichenoid papules on the knees and elbows, psoriasis-like lesions in the groins and on the scalp, a spotty or reticulate hyperpigmentation of the face, trunk and extremities and a partial alopecia of the left eyebrow and eyelashes. The patient's sister was affected by similar but less pronounced cutaneous changes. Although our case shares some similarities with other hereditary palmoplantar keratodermas there remain substantial differences. We therefore believe this case to represent a new entity.
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5/38. Bilateral nephroblastoma in familial Hay-Wells syndrome associated with familial reticulate pigmentation of the skin.

    We report on a girl with maxillary hypoplasia, prominent ears, dry sparse hair, palmar and plantar keratoderma, dystrophic nails, patchy pigmented skin lesions in hands and feet and bilateral wilms tumor. She was born with bilateral ankyloblepharon. The mother and maternal grandmother presented similar ectodermal defects. skin biopsies of the patient and her mother proved to contain cells overexpressing p63 by immunohistochemistry. Karyotypes of the patient and her mother, and FISH studies on lymphocytes and tumor cells of the girl demonstrated a mosaic 11p15.5 deletion. These findings suggest a relationship between familial ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome (Hay-Wells syndrome) and familial reticulate pigmentation of the skin. In addition the development of wilms tumor and 11p15.5 region involvement expand the genetic relationship between these conditions and the enlarging group of genetic entities related to nephroblastoma.
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6/38. Dyschromatosis universalis hereditaria.

    Dyschromatosis universalis hereditaria is a clinically heterogenous disorder. We report two unrelated Indian patients with dyschromatosis universalis hereditaria, who had generalized and progressive reticulate hyper- and hypo-pigmentation of the skin. The oral mucosa and tongue also showed mottled pigmentation. Intriguingly, the palms and soles were also affected with a diffuse hyper-pigmentation interspersed with spotty de-pigmented macules. Dystrophic nail changes with pterygium formation were seen in one case. Histopathology revealed a variable degree of pigmentary incontinence. Although the precise aetiology of this disorder is not yet known, the clinicopathological findings implicate an inherent abnormality of melanosomes or melanin processing.
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7/38. Dermatopathia pigmentosa reticularis: a report of a family demonstrating autosomal dominant inheritance.

    Dermatopathia pigmentosa reticularis is a rare heritable disorder consisting of a triad of cutaneous findings including reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. In addition to this triad, other variable features of dermatopathia pigmentosa reticularis have been described, including adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. Only 10 cases have been described in the world literature to date, and no clear inheritance pattern has been demonstrated. We present a patient with the classic features of the dermatopathia pigmentosa reticularis triad, along with adermatoglyphia, hypohidrosis, and punctate hyperkeratosis of the palms and soles. A family pedigree demonstrates the autosomal dominant inheritance of dermatopathia pigmentosa reticularis.
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8/38. Acral hyperpigmented macules and longitudinal melanonychia in AIDS patients.

    Two patients with AIDS are described who developed acral hyperpigmented macules of the fingers, palms and soles, buccal mucosa and genitalia, associated with longitudinal melanonychia. These pigmentary changes seemed to be independent of zidovudine and were associated in one with diffuse melanoderma and elevated levels of alpha-msh. Histological and ultrastructural studies showed an increase of the dendrites and pigmentation of the melanocytes and few melanosomes in the keratinocytes.
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9/38. hypopigmentation with punctate keratosis of the palms and soles.

    Generalized discrete hypopigmented macules forming a camouflage pattern appeared on the skin of a man. The condition has been present and has not changed since the age of 6 months. Five other members of his family are reported to have the same abnormality. All affected members also have punctate keratosis of the palms and soles. An autosomal dominant pattern of inheritance is suggested.
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10/38. Enlarging pigmented patches on the hand.

    This case illustrates the clinical and pathological features of tinea nigra. awareness of the characteristic features of this cutaneous infection, especially in areas where the organism is endemic, can ultimately lead clinicians to the appropriate diagnosis. If tinea nigra should be considered in the differential diagnosis of palmoplantar pigmentation, potassium hydroxide (KOH) preparation may facilitate the diagnosis.
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