Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2
➤ Gửi thông báo lỗi ⚠️ Báo cáo tài liệu vi phạmNội dung chi tiết: Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2
Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2
SECTION 4. DISORDERS AFFECTING HAIR PIGMENTATION WITHOUT AFFECTING SKIN PIGMENTATIONPREMOLAR APLASIA, HYPERHIDROSIS, AND CANITIES PREMATURAIn 1950, Bo Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2ook [1] described 18 patients with a new autosomal dominant syndrome with complete penetrance but somewhat variable expression and characterized by bicuspid aplasia, premature whitening of the hair, and hyperhidrosis.Early whitening of the hair was found in all 18 cases. Hair whitening began in 14 p Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2atients before or at the age of 14 years, but onset varied from six to 23 years. The whitening was uniform and never patchy. The progression of whitenEbook Vitiligo and other hypomelanoses of hair and skin: Part 2
ing was usually slow, and in the older patients was always complete. The scalp hair was most constantly affected but in six of the 18 cases, there wasSECTION 4. DISORDERS AFFECTING HAIR PIGMENTATION WITHOUT AFFECTING SKIN PIGMENTATIONPREMOLAR APLASIA, HYPERHIDROSIS, AND CANITIES PREMATURAIn 1950, Bo Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2lor was specified (seven were blond, four light brown, three dark brown, one red blond, and one black). The hair was otherwise completely normal. No depigmentation of the skin was observed. The author examined 63 members of this family and found premature graying of the hair in seven who lacked othe Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2r features of the syndrome. All 18 patients had blue irides, but this is such a common trait in Sweden that this observation may represent only coinciEbook Vitiligo and other hypomelanoses of hair and skin: Part 2
dence. Two-thirds of the patients had a definite functional palmoplantar hyperhidrosis. The most striking feature was the involvement of the bicuspid SECTION 4. DISORDERS AFFECTING HAIR PIGMENTATION WITHOUT AFFECTING SKIN PIGMENTATIONPREMOLAR APLASIA, HYPERHIDROSIS, AND CANITIES PREMATURAIn 1950, Bo Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2pids. In most cases, there was a posterior displacement of the canines. Deciduous teeth were present in all cases.General health is unimpaired. The pathogenesis is unknown. No treatment is available.FANCONI SYNDROMEFanconi syndrome is vitamin-D-resistant rickets or osteomalacia with hypophosphatemia Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2, glucosuria, generalized aminoaciduria and generally chronic acidosis, hypouricemia, and hypokalemia. It may occur early (infantile form) or later (aEbook Vitiligo and other hypomelanoses of hair and skin: Part 2
dult form) in life.Fanconi syndrome may be idiopathic or associated with cystinosis, Lowe syndrome, or tyrosinemia. In a series of 24 patients reporteSECTION 4. DISORDERS AFFECTING HAIR PIGMENTATION WITHOUT AFFECTING SKIN PIGMENTATIONPREMOLAR APLASIA, HYPERHIDROSIS, AND CANITIES PREMATURAIn 1950, Bo Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2ificantly fairer hair electrospectrophotometrically than their siblings or than age-matched controls.Schneider and Seegmiller [3] noted that although these patients with increased intracellular cystine often have blond hair and are significantly fairer than their parents, they have much less tendenc Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2y to sunburn than would be expected for their degree of pigmentary dilution.461GENETIC ANDCONGENITALDISORDERS462CHAPTER 1The mechanism of hypopigmentaEbook Vitiligo and other hypomelanoses of hair and skin: Part 2
tion is unknown but may relate to cystine binding of sulfhydryl-requiring enzymes.ROTHMUND-THOMSON SYNDROMERothmund-Thomson syndrome is a rare, autosoSECTION 4. DISORDERS AFFECTING HAIR PIGMENTATION WITHOUT AFFECTING SKIN PIGMENTATIONPREMOLAR APLASIA, HYPERHIDROSIS, AND CANITIES PREMATURAIn 1950, Bo Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2ometimes warty keratosis [4,5]. Other features include alopecia, photosensitivity, bilateral cataracts, short stature, small skull, sometimes with birdlike features, and hypogonadism. Life expectancy appears to be normal. Premature canities is an inconstant feature of Rothmund-Thomson syndrome; it s Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2ometimes appears in adolescence and progresses rapidly.DYSTROPHIA MYOTONICACanities occurring in the second or third decade may be seen in dystrophiaEbook Vitiligo and other hypomelanoses of hair and skin: Part 2
myotonica [61, an entity that was first described in 1909 by Steinert [7]. This rare disorder, which is inherited as an autosomal dominant disease, usSECTION 4. DISORDERS AFFECTING HAIR PIGMENTATION WITHOUT AFFECTING SKIN PIGMENTATIONPREMOLAR APLASIA, HYPERHIDROSIS, AND CANITIES PREMATURAIn 1950, Bo Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2teristic lugubrious physiognomy. Testicular atrophy, various disorders of ovarian function, and low basal metabolic rate are frequently observed. Few of these patients survive beyond the sixth decade and death is often attributed to aspiration pneumonia or to cardiac conduction defects.PREMATURE AGI Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2NG SYNDROMESTwo of the premature aging syndromes, Werner syndrome (pangeria) and Hutchinson-Gilford syndrome (progeria), are characterized by prematurEbook Vitiligo and other hypomelanoses of hair and skin: Part 2
e graying of hair.Werner Syndrome (Pangeria)Werner syndrome, which is a rare autosomal recessive disorder, was first described in 1904 in the thesis “SECTION 4. DISORDERS AFFECTING HAIR PIGMENTATION WITHOUT AFFECTING SKIN PIGMENTATIONPREMOLAR APLASIA, HYPERHIDROSIS, AND CANITIES PREMATURAIn 1950, Bo Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2r siblings with cataracts and sclerodermatous changes as well as a senile appearance and graying beginning at about the age of 20. Males and females are equally affected. The nature of the fundamental defect responsible for the disease is unknown.Pigmentary DisturbancesGraying of hair is one of the Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2earliest characteristic signs of the disease. From a survey of 125 cases, Epstein et al. [9] established that gray hair is first seen at about 20 yearEbook Vitiligo and other hypomelanoses of hair and skin: Part 2
s of age. while the mean age of onset is 25.3 years foralteration of the voice, 30 years for detection of cataract formation, 33 years for skin ulcersSECTION 4. DISORDERS AFFECTING HAIR PIGMENTATION WITHOUT AFFECTING SKIN PIGMENTATIONPREMOLAR APLASIA, HYPERHIDROSIS, AND CANITIES PREMATURAIn 1950, Bo Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2temples and eyebrows, may require from five to 20 years for maximal loss of pigment, and often progresses to complete whiteness. Baldness follows graying of the hair bj' several years.Other Clinical FeaturesPatients with Werner syndrome have a characteristic habitus with a beakshaped nose, stocky tr Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2unk with slender extremities, and short stature first apparent in adolescence. A weak, high-pitched voice is characteristic. The skin and subcutaneousEbook Vitiligo and other hypomelanoses of hair and skin: Part 2
tissues are atrophic with circumscribed hyperkeratosis. Indolent ulcers often develop over malleoli of ankles, Achilles tendon, heels and toes. Most SECTION 4. DISORDERS AFFECTING HAIR PIGMENTATION WITHOUT AFFECTING SKIN PIGMENTATIONPREMOLAR APLASIA, HYPERHIDROSIS, AND CANITIES PREMATURAIn 1950, Bo Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2lcifications of ligaments, tendons, and subcutaneous tissues may develop prematurely. The incidence of malignancy is increased and the life expectancy is decreased.DiagnosisThe combination of the prematurely aged appearance, the other physical features, the scleroderma-like skin changes, and the cat Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2aracts establish the diagnosis Ị10Ị. The other premature aging syndromes (metageria, acrogeria, total lipodystrophy, and progeria) have a different clEbook Vitiligo and other hypomelanoses of hair and skin: Part 2
inical picture 111). Sclerosis of the skin does not usually accompany Rothmund-Thomson syndrome. Observation of early graying may alert the physician SECTION 4. DISORDERS AFFECTING HAIR PIGMENTATION WITHOUT AFFECTING SKIN PIGMENTATIONPREMOLAR APLASIA, HYPERHIDROSIS, AND CANITIES PREMATURAIn 1950, Bo Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2eported a boy who had been bald since infancy and whose skin was atrophic and wrinkled. This child and another patient were subsequently reported by Gilford |13), who first used the name "progeria.”Progeria is a rare condition occurring equally in both sexes. The primary defect responsible for the d Ebook Vitiligo and other hypomelanoses of hair and skin: Part 2isease is unknown.Pigmentary DisturbancesSECTION 4. DISORDERS AFFECTING HAIR PIGMENTATION WITHOUT AFFECTING SKIN PIGMENTATIONPREMOLAR APLASIA, HYPERHIDROSIS, AND CANITIES PREMATURAIn 1950, BoSECTION 4. DISORDERS AFFECTING HAIR PIGMENTATION WITHOUT AFFECTING SKIN PIGMENTATIONPREMOLAR APLASIA, HYPERHIDROSIS, AND CANITIES PREMATURAIn 1950, BoGọi ngay
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