A 26- year- old man presented with persistent redness of the face over the past 2 years and thickening of the ears for a year. The current state was preceded by three to four episodes of epistaxis, 2- 3 months previou...A 26- year- old man presented with persistent redness of the face over the past 2 years and thickening of the ears for a year. The current state was preceded by three to four episodes of epistaxis, 2- 3 months previously. The patient had not received any treatment. Cutaneous examination revealed indurated (infiltrated) plaques on the face and ears over an apparently normal- looking skin, and numerous, small, ill- defined, slightly hypopigmented, shiny macules all over the body. They were bilateral and symmetric (Fig. 1a,b). There was no variation in the cutaneous sensations of temperature, touch, and pain. The patient showed loss of the lateral eyebrows and conjunctival congestion. Examination of the nerves revealed enlargement of the ulnar, radial, posterior tibial, and right common peroneal nerves; however, there was no tenderness of the nerves. Systemic examination was within normal limits. Examination of a slit- skin smear (under oil immersion), prepared from a representative lesion (plaque), demonstrated an abundance of solid and uniform- staining acid- fast bacilli, occurring either singly or in parallel clumps/globii, in an average field (6+ ). Furthermore, a scraping mount (10% KOH) prepared from the lesion on the back was negative. Hematoxylin and eosin- stained sections prepared from a biopsy taken from a plaque revealed a conspicuous granuloma composed of peculiar spindle- shaped histiocytes. Several of the granulomas were present in the mid and lower dermis. They were characterized by whorled, criss- cross, or parallel patterns. Solid and uniform- staining, slender, rod- like (length three times that of the breadth) acidfast bacilli were found scattered throughout the section. A few histiocytes closely packed with acid- fast bacilli, together with lymphocytic infiltrates, were also seen. There was a prominent eosinophilic stained clear zone just below the epidermis. It was free from acid- fast bacilli as well as the inflammatory infiltrate (Fig. 2a,b). A definitive diagnosis of untreated lepromatous l展开更多
Dyschromatosis symmetrica hereditaria (DSH [MIM 127400]-) is characterized by the presence of hyperpigmented and hypopigmented macules mostly on the dorsal a spects of the extremities. Genetic studies have identified ...Dyschromatosis symmetrica hereditaria (DSH [MIM 127400]-) is characterized by the presence of hyperpigmented and hypopigmented macules mostly on the dorsal a spects of the extremities. Genetic studies have identified mutations in the ADAR gene, encoding double-stranded RNA-specific adenosine deaminase, to be respon sible for this disorder. Here, we found a novel deletion mutation in the ADAR ge ne, 2929delA, in a Chinese family with DSH. This mutation is located in codon 97 7 (AGC→GC), and leads to a frameshift and truncated protein of 250 amino acids with 76 novel amino acids prior to a premature stop codon. The truncated ADAR is predicted to lack the ADEAMc (tRNA-specific and double-stranded RNA adenosine deaminase) domain. This study should be useful for genetic counseling and prena tal diagnosis for affected families and in expanding the database on ADAR gene mutations in DSH.展开更多
An 11- year- old girl had multiple, disseminated, rather small café - au- laitmacules and hypochromic spots involving the neck, the trunk and the legs. In part, the two types of macules showed a spatial proximity...An 11- year- old girl had multiple, disseminated, rather small café - au- laitmacules and hypochromic spots involving the neck, the trunk and the legs. In part, the two types of macules showed a spatial proximity, suggesting didymosis (twin spotting). The term cutis tricolor has been proposed to describe congenital paired hyperchromic and hypochromic macules on a background of intermediate skin. Because the spots present in this case were much smaller than those described in previous cases of cutis tricolor, we here propose the distinguishing term “ cutis tricolor parvimaculata” . The underlying gene locus may be a hot spot for postzygotic recombinations, giving rise to multiple twin spots. Moreover, the girl had developed seizures from the age of 10 years, and a large oligodendroglioma involving the left frontal lobe was found. A causal relationship between the cutaneous phenotype and the cerebral tumor is unproven but likely. The skin lesions were reminiscent of a disorder described by Westerhof et al. in 1978 under the term “ hereditary congenital hypopigmented and hyperpigmented macules” . So far, however, it is not clear whether cutis tricolor parvimaculata is identical with or different from this disorder.展开更多
文摘A 26- year- old man presented with persistent redness of the face over the past 2 years and thickening of the ears for a year. The current state was preceded by three to four episodes of epistaxis, 2- 3 months previously. The patient had not received any treatment. Cutaneous examination revealed indurated (infiltrated) plaques on the face and ears over an apparently normal- looking skin, and numerous, small, ill- defined, slightly hypopigmented, shiny macules all over the body. They were bilateral and symmetric (Fig. 1a,b). There was no variation in the cutaneous sensations of temperature, touch, and pain. The patient showed loss of the lateral eyebrows and conjunctival congestion. Examination of the nerves revealed enlargement of the ulnar, radial, posterior tibial, and right common peroneal nerves; however, there was no tenderness of the nerves. Systemic examination was within normal limits. Examination of a slit- skin smear (under oil immersion), prepared from a representative lesion (plaque), demonstrated an abundance of solid and uniform- staining acid- fast bacilli, occurring either singly or in parallel clumps/globii, in an average field (6+ ). Furthermore, a scraping mount (10% KOH) prepared from the lesion on the back was negative. Hematoxylin and eosin- stained sections prepared from a biopsy taken from a plaque revealed a conspicuous granuloma composed of peculiar spindle- shaped histiocytes. Several of the granulomas were present in the mid and lower dermis. They were characterized by whorled, criss- cross, or parallel patterns. Solid and uniform- staining, slender, rod- like (length three times that of the breadth) acidfast bacilli were found scattered throughout the section. A few histiocytes closely packed with acid- fast bacilli, together with lymphocytic infiltrates, were also seen. There was a prominent eosinophilic stained clear zone just below the epidermis. It was free from acid- fast bacilli as well as the inflammatory infiltrate (Fig. 2a,b). A definitive diagnosis of untreated lepromatous l
文摘Dyschromatosis symmetrica hereditaria (DSH [MIM 127400]-) is characterized by the presence of hyperpigmented and hypopigmented macules mostly on the dorsal a spects of the extremities. Genetic studies have identified mutations in the ADAR gene, encoding double-stranded RNA-specific adenosine deaminase, to be respon sible for this disorder. Here, we found a novel deletion mutation in the ADAR ge ne, 2929delA, in a Chinese family with DSH. This mutation is located in codon 97 7 (AGC→GC), and leads to a frameshift and truncated protein of 250 amino acids with 76 novel amino acids prior to a premature stop codon. The truncated ADAR is predicted to lack the ADEAMc (tRNA-specific and double-stranded RNA adenosine deaminase) domain. This study should be useful for genetic counseling and prena tal diagnosis for affected families and in expanding the database on ADAR gene mutations in DSH.
文摘An 11- year- old girl had multiple, disseminated, rather small café - au- laitmacules and hypochromic spots involving the neck, the trunk and the legs. In part, the two types of macules showed a spatial proximity, suggesting didymosis (twin spotting). The term cutis tricolor has been proposed to describe congenital paired hyperchromic and hypochromic macules on a background of intermediate skin. Because the spots present in this case were much smaller than those described in previous cases of cutis tricolor, we here propose the distinguishing term “ cutis tricolor parvimaculata” . The underlying gene locus may be a hot spot for postzygotic recombinations, giving rise to multiple twin spots. Moreover, the girl had developed seizures from the age of 10 years, and a large oligodendroglioma involving the left frontal lobe was found. A causal relationship between the cutaneous phenotype and the cerebral tumor is unproven but likely. The skin lesions were reminiscent of a disorder described by Westerhof et al. in 1978 under the term “ hereditary congenital hypopigmented and hyperpigmented macules” . So far, however, it is not clear whether cutis tricolor parvimaculata is identical with or different from this disorder.
