“…Compared to previous reports, the frequency of neurologic manifestations (excepting autism) was lower in this cohort, and the frequency of skin manifestations (excepting hypomelanotic macules) was higher in this cohort. The frequencies of pulmonary lymphangioleiomyomatosis and renal manifestations were not significantly different from those previously reported. …”
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“…INTRODUCTION AND IMPORTANCE: Dyschromatosis symmetrica hereditaria (DSH) are rare autosomal dominant pigmentary genodermatosis characterized by reticular hyper- and hypopigmented skin macules on the dorsal aspect of the extremities and freckle-like spots on the face, sparing the palms and soles. …”
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“…Neurofibromatosis type 1, characterized by neurofibromas and café-au-lait macules, is one of the most common genetic disorders caused by pathogenic NF1 variants. …”
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“…Other macroscopic features appear as bluish macules, which can be perceived as bruising. Wide surgical resection is the optimal treatment and is usually combined with radiotherapy and/or chemotherapy. …”
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“…CASE PRESENTATION: Herein, we report a case of 16 years old female presenting with right flank pain, hematuria, hypopigmented macule over the back, ash leaf spots over the right upper and lower limb, and a palpable mass over the right lumbar region. …”
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“…It is characterized by dark brown and slate gray macules and patches. The nails, scalp, and oral mucosa are usually spared, unlike lichen planus. …”
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“…At one month after emergency room presentation, multiple new dusky violaceous macules and plaques appeared on his chest, face, upper back, neck, and upper limbs. …”
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“…Background and Objectives: Vitiligo is a skin disorder characterized by hypopigmented macules occurring due to melanocyte destruction. An interplay of several biochemical mechanisms has been proposed to explain the etiopathogenesis of vitiligo, such as genetic, autoimmune responses, generation of inflammatory mediators, oxidative stress, and melanocyte detachment mechanisms. …”
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“…The autosomal dominant condition known as neurofibromatosis type 1 (NF-1) is characterized by café au lait macules and neurofibromatosis. Aneurysms in renal arteries are rare. …”
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“…PFPT was commonly concomitant with pigmentary disorders, including mucosal melanotic macules, Laugier-Hunziker syndrome, melasma, and melanonychia (6/19, 31.6%). …”
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“…The lesions started to show responses to the treatment at week 6th as some of the MC papules became hyperpigmented macules. The side effects of therapy that appeared were itching and hyperpigmentation. …”
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“…Most common clinical feature was hypopigmented plaque, followed by erythematous skin lesions, nodules, macules etc. Bacteriological index was studied in 192 slit skin smears. …”
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“…METHODS: We report on a female patient with a ring chromosome 22 presenting with severe mental retardation, autistic behaviour, café-au-lait macules and facial dysmorphism. Peripheral blood lymphocytes were karyotyped and array CGH was performed on extracted DNA. …”
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“…There were a few itchy blisters appearing on her arms, lower legs and truck, especially on the sun-exposed areas in summer. Some hypopigmented macules presented with slight atrophy. Patient 2 was 39-year-old, the elder sister of patient 1. …”
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“…Clinically, the lesion presented as an irregular double-colored macule of about 2 cm in diameter, with irregular borders, suspicious of malignancy. …”
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“…Le tableau clinique associait un syndrome infectieux, une détresse respiratoire sévère avec coma, des râles sous-crépitants diffus aux deux champs pulmonaires, et une éruption cutanée disséminée faite de macules, vésicules, croûtes, évocatrice de la varicelle. …”
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“…A positive familial history of TSC was seen in 29.6% of the patients. Hypo pigmented macules were the most common manifestation (82.7%). …”
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“…Vitiligo is a chronic disorder characterized by depigmented macules which can slowly enlarge with the concurrent development of new lesions. …”
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“…MAS is a rare genetic disorder (about 3% of all FD's) that comprises a triad of polyostotic FD, café-au-lait skin macules, and precocious puberty. MAS can involve the orbit region and cause stenosis in the optic canal, leading the patient to a progressive visual loss. …”
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