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1.
An 11-year-old girl had an uncountable number of hyperkeratotic comedo-like lesions on her shoulders, arms, buttocks, and thighs, present for 5 years. Depressed scars, cysts, and small purulent nodules were observed in involved areas. Her 6-year-old brother does not have similar lesions. Other members of her family were not available for examination. Light microscopy showed dilated elongated infundibula filled with corneocytes and arranged in a lamellated pattern. A peri-infundibular inflammatory infiltrate was present. 相似文献
2.
Adams-Oliver syndrome is a rare congenital anomaly complex characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects. We present a 9-year-old girl with a large, congenital scalp defect on her vertex, without underlying bone defect. Brachydactyly and syndactylia of her toes were also evident. Her 13-year-older brother had an 8 x 5 cm scalp defect without any limb defects (isolated ACC). 相似文献
3.
Mario Vaccaro MD PhD Claudio Guarneri MD Fabrizio Guarneri MD PhD Maria Lentini MD Serafinella P. Cannavò MD 《Pediatric dermatology》2020,37(6):1207-1209
We describe a case of pretibial dystrophic epidermolysis bullosa in a 5-year-old girl, her mother, and maternal great aunt. All subjects had trauma-induced blisters and erosions, with scarring, on the knees and lower legs, and nail dystrophy of variable severity. Genetic analysis in all three patients showed a 6849del18 mutation in the COL7A1 gene, causing the production of shortened collagen VII polypeptides and resulting in a mild phenotype, with localized acral blisters and nail involvement. 相似文献
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Three siblings, two boys and one girl, presented with pigmentary abnormalities. The brothers, ages 11 and 6 years, had diffuse reticulate macular hyperpigmentation with onset in early childhood. In addition, these boys had hypohydrosis, coarse hair with an upswept frontal hairline, failure to thrive, and chronic pulmonary disease. The older boy also had corneal dystrophy and marked photophobia. A punch biopsy specimen from the 11-year-old showed melanophages and necrotic keratinocytes. Stains for amyloid were negative. The sister, age 2 years, had congenital linear hyperpigmented patches involving the intertrigenous areas, but was otherwise normal. The clinical findings of these children were consistent with X-linked reticulate pigmentary disorder with systemic manifestations. We present a summary of the clinical manifestations of this rare disorder and discuss efforts to identify the causative gene. 相似文献
7.
Although solitary pilomatricomas are relatively common, multiple pilomatricomas occur rarely, in 2-3.5% of reported cases. The majority of cases of familial multiple pilomatricomas occur in association with myotonic dystrophy. The occurrence of multiple familial pilomatricomas in patients who are otherwise well is extremely rare. We describe a 29-year-old man with multiple pilomatricomas whose father and brother also had similar lesions. There is no history of myotonic dystrophy. 相似文献
8.
R Caputo N Sambvani M Monti S Cavicchini A Carrassi R Ratiglia 《Archives of dermatology》1988,124(3):424-428
Dermochondrocorneal dystrophy (Fran?ois' syndrome) is an extremely rare disorder characterized by firm, nodular lesions involving the hands and the face; osteochondrodystrophy of the peripheral extremital bones, resulting in limitation of movement; and corneal dystrophy marked by white or brownish opacities. A nonfamilial case of dermochondrocorneal dystrophy was studied in a 45-year-old woman who had severe involvement of the gingival and palatal mucous membranes. 相似文献
9.
A 5-year-old girl with a family history of LEOPARD syndrome had multiple lentigines on the face and trunk, hypertelorism, and growth retardation. In addition, she had congenital corneal tumors on both eyes. Histologically the tumors were choristoma. The neuroectodermal origin hypothesis of LEOPARD syndrome could explain the presence of a congenital corneal tumor in this patient. We suggest that corneal tumor may represent an unrecognized associated finding in this syndrome. 相似文献
10.
L Hellgren 《Acta dermato-venereologica》1975,55(3):237-240
A case of incontinentia pigmenti achromians syndrome with associated abnormalities occurring in a 21-year-old woman is reported. Since birth she has had whorling macular, hypopigmented areas on the skin of the lateral, anterior, and posterior aspects of the trunk. Histopathological picture: the melanocytes in the depigmented areas are slightly reduced in number. Some of the associated abnormalities that she exhibits, such as coarse curly hair on her scalp, and pigmented spots in her left iris, have never before been described. Other of her symptoms--thick lips and myopia--have been reported earlier. The patient's mother, 15-year-old sister and 9-year-old brother showed, from birth, brown hyperpigmented maculae on the left halves of their bodies. 相似文献
11.
A 6-year-old girl and her 9-year-old brother, born of nonconsanguineous parents, had hoarseness and multiple, asymptomatic, raised skin lesions present since childhood. On examination, both siblings had hoarseness and numerous skin-colored, waxy papules distributed over the forehead, face, neck, axilla, groin, and extremities. Acneiform (pocklike) scars were present on the face, trunk, and extremities. Eyelid beading (moniliform blepharosis) was present over bilateral upper and lower eyelids. The tongue, lips, and frenulum were thickened and infiltrated, and the patients were unable to protrude the tongue out of the mouth. The scalp had patchy alopecia. Histological examination of representative skin specimens (from both siblings) showed deposition of pink, amorphous material in the papillary dermis, around blood vessels, and around appendages. These deposits stained positive with Periodic Acid-Schiff stain, were diastase resistant, and were negative for Congo red, confirming our clinical diagnosis of lipoid proteinosis. Over 250 cases of this rare disorder have been described in the literature, but occurrence of lipoid proteinosis in siblings is rare. 相似文献
12.
Abstract: A 9½-year-old girl was seen with 20-nail dystrophy, Lichen planus was suspected and further examination revealed other lesions localized to the oral mucosa. The diagnosis was confirmed as lichen planus by biopsy of tissue from the oral lesions. Careful examination of all mucocutaneous surfaces is recommended before accepting the diagnosis of so-called isolated 20-nail dystrophy of childhood. 相似文献
13.
Shinichiro Sakata Jacinta Opie Anne Howard 《The Australasian journal of dermatology》2008,49(1):55-56
A 14-year-old girl and her 47-year-old father presented with fingernails that were hypoplastic, spoon-shaped and ridged since birth. Fingertip dermatitis and paronychia were also observed in the daughter, which had been present since birth and had progressively worsened. The daughter denied trauma to her fingernails or chronic exposure to irritants and allergens. She had previously tried topical corticosteroids for 18 months without any benefit. We put forward the possibility of chronic paronychia and fingertip dermatitis, refractory to topical corticosteroids, as associations of digital nail-patella syndrome. 相似文献
14.
A case of twenty-nail dystrophy in an 7-year-old girl is presented. The histopathological findings were incompatible with lichen planus. The differential diagnosis is briefly discussed, and the literature reviewed. 相似文献
15.
患者,女,17岁。面部毛细血管扩张17年。出生40天出现面部多发粟粒大红色丘疹,伴毛细血管扩张。系统检查正常。组织病理改变符合Bloom综合征。 相似文献
16.
Judith A. Nedwich M.B.B.S. F.A.C.D. John J. Sullivan F.R.A.C.P. F.R.C.P.A. 《International journal of dermatology》1987,26(6):358-361
Multiple small hyperkeratoses were observed in a 42-year-old woman. They had first appeared in early adult life. There was a history of an apparently identical disorder affecting her father, her brother, and her brother's son. A similar condition has been described in four previous reports in which seven individual cases have been documented. Four had a positive family history, bringing the total number of previously known cases to 14. The disorder is characterized by the development in early adult life of widely disseminated small spikes of keratin that are unrelated to hair follicles. Microscopic examination shows digitate orthokeratosis with moderate epidermal cell hyperplasia and a normal underlying dermis. 相似文献
17.
H Ippen G Nagel 《Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete》1984,35(4):182-187
Chronic graft-versus-host reaction is reported in a 19-year-old woman who developed poikilosclerodermic skin lesions within a few months following transplantation of bone marrow donated by her brother as she had acute lymphatic leukemia. The literature and the various clinical features and cutaneous manifestations of graft-versus-host reactions are reviewed. 相似文献
18.
F Cambazard C Hermier J Thivolet H Perrot 《Annales de dermatologie et de vénéréologie》1986,113(1):15-23
Initially described as incontinentia pigmenti achromians, Ito's hypomelanosis is a congenital disease characterized dermatologically by depigmented maculae arranged in a specific pattern. These maculae appear suddenly, unheralded by an inflammatory process, and are arranged on the limbs as lines and on the trunk as whirlwinds or mottled cakes. Other abnormalities, notably neurological, ophthalmic or musculoskeletal may be associated with this spray-like depigmentation of the skin. We report here three cases of this disease, which is probably more common than the scarcity of cases hitherto published would suggest. Case no. 1. A 9-year-old boy presented since the age of 5 with generalized convulsive fits predominant on the right side. Neurological examinations between fits were negative. IQ, FO and CT scans of the brain were normal. During the first months of life, the child had developed a spray-like depigmentation on the right half of his back and on the anterior and posterior aspects of his right arm. Case no. 2. A 2-year-old girl was examined for a cutaneous depigmentation which had developed when she was about 3 months' old and had progressively extended from her left knee to her left hypochondrium. Case no. 3. An 8-year-old girl presented with mental retardation and myopia, but also with a spray-like depigmentation on the left part of her chest. The skin lesion had been noticed by her parents after she had exposed herself to the sun in a tropical country. Histological examination performed in the first two patients showed some degree of hypopigmentation of the epidermis without pigmentary incontinence.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
19.
Francisco Camacho Juan Ferrando Antonio R. Pichardo Ismael Sotillo Enrique Jorquera 《Pediatric dermatology》1993,10(1):54-57
Abstract: A 20-year-old woman and her 12-year-old brother had hypohidrotic ectodermal dysplasia, cleft lip and palate, midfacial hypoplasia with narrow nose from the nasal bridge to the tip, narrow dysplastic nails, and conical teeth and hypodontia, and hypospadias and hypoplastic uvula in the boy. The woman had major underdevelopment of intellectual capacity. The most important hair anomalies in both siblings were sparse eyebrows, pili torti, and pili canaliculi. Some of the pili canaliculi had two canals (pili bicanaliculi), and the cross section for scanning electron microscopy had a quadrangular aspect. This is the seventh family reported with Rapp-Hodgkin ectodermal dysplasia. 相似文献
20.
A 2-year-old girl developed an erythematous papular eruption on her face and extremities a week after an epidemic of hepatitis A had occurred in her school. Clinical and laboratory signs of acute hepatitis, together with serologic verification, confirmed hepatitis A infection. That diagnosis should be considered in the etiology of papular acrodermatitis of childhood. 相似文献