Histopathology showed similar features as that of the first case. Dyschromatosis symmetrica hereditaria dsh, also known as reticulated acropigmentation of dohi, is an autosomal dominant disease with high penetrance, characterized by hypo and hyperpigmented macules of varying sizes on the dorsal of the extremities with reticulated pattern. Summary dyschromatosis universalis hereditaria is a clinically heterogenous disorder. Dyschromatosis definition of dyschromatosis by medical. Carolinebalvedigaiewski, 1 sergiozunedaserafini, 1 betinawerner, 2 andjanyanam. It is seen predominantly in individuals of japanese descent, although cases have been described in multiple different populations worldwide. Dyschromatosis universalis hereditaria naik cl, singh g. Generalized dowlingdegos disease with hypopigmented. Here we are reporting three atypical cases of ddd in a family. Dyschromatosis universalis hereditaria is a rare genodermatosis reported initially and mainly in japan.
Dyschromatosis universalis hereditaria is a rare genodermatosis, first reported from japan. Dyschromatosis symmetrica hereditaria 1 genetic and rare. Histopathology reveals a variable degree of pigmentary incontinence. Dyschromatosis universalis hereditaria duh is a rare genodermatosis reported. Pdf generalized dyspigmentation on the body mustafa. Dyschromatosis universalis hereditaria duh is a rare disease that is. Full text dyschromatosis symmetrica hereditaria with. It occurs most commonly in japanese persons, with sporadic reports from south africa, india, and iraq.
Aug 14, 2015 dyschromatosis universalis hereditaria duh is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Dyschromatosis universalis hereditary is a rare genodermatosis characterized by small irregular hyperand hypopigmented macules present in early childhood on the trunk and extremities but palms and soles usually are not involved. Key words dyschromatosis dyschromatosis universalis hereditaria dyspigmentation endstage renal disease renal failure abstract dyschromatosis universalis hereditaria duh is a rare autosomal dominant inherited dermatosis which usually appears during childhood and is characterized by dyspigmentation, with both hypopigmented and. Although majority of cases show autosomal dominant pattern of inheritance, a few have inherited it in an autosomal recessive fashion. Mutations in abcb6 cause dyschromatosis universalis. Dyschromatosis universalis hereditaria in a young nigerian. Fph, fphh, and likely dyschromatosis universalis hereditaria.
Dyschromatosis symmetrica hereditaria dsh, omim 127400, initially known as reticulated acropigmentation of dohi, 1 was first described by toyama 2 in 1929. Dyschromatosis universalis hereditaria is a rare genodermatosis characterized by reticulate hyper and hypo pigmentated macules in a generalized distribution 856 both autosomal dominant and recessive inheritance have been reported with the disorder it has been associated with mutations in genes sash1 and abcb6 references. Dyschromatosis universalis hereditaria sethuraman 2002. Dyschromatosis universalis hereditaria with involvement of. The clinical feature of this disease is reticulate discoloration.
Melanophages in the upper dermis were detectable only in the hyperpigmented areas. On most occasions, the lesions begin on limbs and then extend to trunk. Although, each condition possesses unique phenotypic characteristics and the prognosis for each is somewhat different, these disorders are highly overlapped and difficult to differentiate in the clinical setting. Dyschromatosis symmetrica hereditaria dsh is a pigmentary genodermatosis of autosomaldominant inheritance. The presence of many melanosomes scattered in the widened intercellular spaces, in addition to the marked hereditary acquireddyschromatosis universalis hereditaria duh 3 arsenical pigmentation 2 dyschromatosis symmetrica hereditaria 7 antimalarialinduced. Dyschromatosis universalis hereditaria duh is a rare genodermatosis reported initially and mainly in japan. The majority of cases are inherited in an autosomal dominant fashion. Meera govindaraju, thilak sundararaj, brindha thangaraj dyschromatosis universalis hereditaria duh is an autosomal dominant inherited rare genodermatosis wherein patient presents with hypopigmented and hyperpigmented macules of varying sizes in a reticulate pattern. Dyschromatosis is variation of skin pigmentation, consisting of asymptomatic welldemarcated and irregular brown macules admixed with hypopigmented macules of varying size 2. Here, we report a case of a caucasian 11yearold boy with duh and an unaffected twin brother. We report two unrelated indian patients with dyschromatosis universalis hereditaria, who had generalized and progressive reticulate hyper. Pdf dyschromatosis universalis hereditaria duh is a rare pigmentary disorder characterized by the presence of mottled hyperpigmented. Dowlingdegos disease ddd is a rare autosomal dominant condition characterized by multiple, small, round pigmented macules usually arranged in reticular pattern, chiefly distributed in axillae and groins. After excluding the two known duh loci, we performed genomewide linkage analysis.
It has been disorder including her sister, father, 5 out of 7 paternal described almost exclusively in asian. Dyschromatosis symmetrica hereditaria also known as reticulate acropigmentation of dohi, and symmetrical dyschromatosis of the extremities is a rare autosomally inherited dermatosis. Dyschromatosis universalis hereditaria duh is an autosomal dominant pigmentary genodermatosis characterized by the presence of patches of hyperpigmentation and hypopigmented macules distributed over the body, with most cases reported in asia. Dyschromatosis symmetrica hereditaria with cutaneous lupus erythematosus and hyperthyroidism fahad alsaif,1 ahmed alhumidi,2 rama ayed alhallaf1 1dermatology department, 2pathology department, college of medicine, king saud university, riyadh, saudi arabia abstract. In this study, we report 10 novel mutations responsible for dsh.
This disease was later reported under the name of leukopathia punctata et reticularis symmetrica by matsumoto12 and acropigmentatio symmetrica by koyama. A series of five interesting cases from india namitha p. Although ocular albinism, iris coloboma, aniridia, chorioretinal coloboma. Ten novel mutations of the adar1 gene in japanese patients. Department of pathology, chu farhat hached sousse, tunisia. This dyschromatosis is associated with hightone deafness that was not present in this case. Online mendelian inheritance in man omim 127500 is a rare autosomal dominant genodermatosis initially described by ichikawa and hiraga in 1933.
Dyschromatosis universalis hereditaria and dyschromatosis symmetrica hereditaria were considered as clinical differentials. Localized form of dyschromatosis universalis hereditaria in a 14yearold girl. Duh, dyschromatosis symmetrica hereditaria also termed acropigmentation of dohi, and unilateral dermatomal pigmentary dermatosis. Aug 01, 2019 pubmed is a searchable database of medical literature and lists journal articles that discuss dyschromatosis universalis hereditaria. Click on the link to view a sample search on this topic.
Dyschromatosis universalis hereditaria rai r, kaur i. Full text dyschromatosis symmetrica hereditaria with cutaneous. It is characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities 855 it presents primarily in the japanese, but has also. Dyschromatosis symmetrica hereditaria dsh is a pigmentary genodermatosis of autosomal dominant inheritance which is characterized by a combination of hyperpigmented and hypopigmented macules on the face, back of the hands, and feet. It is characterized by appearance of pinpoint to peasized hypo and hyperpigmented macules distributed in a reticulated pattern over the. Research paper sash1 promotes melanin synthesis and migration. Dyschromatosis universalis hereditaria duh is a rare genodermatosis that presents with early onset of diffuse mottled pigmentation. Sporadic case of dyschromatosis universalis hereditaria showing. Introduction dyschromatosis universalis hereditaria duh is a rare genodermatosis characterized by the presence of hypo and hyperpigmented macules in a reticulate pattern, mainly over trunk and limbs. Histopathology of a skin biopsy specimen showed mild hyperkeratosis.
Table 1 differential diagnosis of dyschromatosis universalis hereditaria. Dyschromatosis universalis hereditaria our dermatology online. Dyschromatosis universalis hereditaria duh is a pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body. Dyschromatosis symmetrica hereditaria dyschromatosis symmetrica hereditaria fig 3 was described by toyama11 in 1910. Mutation analysis of the adar1 gene in dyschromatosis. Dyschromatosis universalis hereditaria in three siblings. Duh is a rare genodermatoses characterised by hyperpigmented and hypopigmented macules which are variable in size and shape 1. It is characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. The mixtures of hyper and hypopigmented macules on the dorsal aspects of hands were various. Dyschromatosis universalis hereditaria duh is a rare genodermatosis characterized by the presence of hypo and hyperpigmented macules in a reticulate pattern, mainly over trunk and limbs.
Both autosomal dominant and recessive inheritance have been reported with the disorder. Lesions of dyschromatosis universalis hereditaria have to be differentiated from other inherited reticulate pigmentary disorders such as dermatopathia pigmentosa reticularis which is characterized by triad of reticulate hyperpigmentation, noncicatricial alopecia clinicalpediatricsdermatology. From hypochromic lesion, histology demonstrated a compact. However, subsequent cases have been reported from other countries. Dyschromatosis universalis hereditaria duh is a rare. Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family. Later on many cases have been reported from other countries of the world. Dyschromatosis in a child a case report and differential. We report a case of duh in a south indian woman with a positive family history with cosmetic disfigurement and severe psychological impairment. Duh is clinically diagnosed on the basis of widely distributed small hypo and hyperpigmented lesions with appearance in infancy or early childhood and progression until stagnation before adolescence 2. Majority of the cases show autosomal dominant pattern of inheritance, and a few have inherited it in an autosomal recessive fashion. Most of the cases reported in literature are from japan.
Dyschromatosis symmetrica hereditaria with neurological. Histopathological examination showed pigment incontinence with collagenisation of the dermis. It is a rare pigmentary genodermatosis that is characterized by onset of hyper and hypopigmented macules on the face and dorsal aspects of the extremities in infancy or early childhood. Clinical phenotypes of dyschromatosis symmetrica hereditaria dsh, dyschromatosis universalis hereditaria duh, and acropigmentatio reticularis ar. Dyschromatosis universalis hereditaria in three siblings bhat. Universal dyschromatosis associated with photosensitivity and. Dyschromatosis universalis hereditaria springerlink. Dyschromatosis symmetrica hereditaria dsh is a rare genodermatosis characterized by various sizes of both hyper. Dyschromatosis universalis hereditaria duh is a rare genodermatosis where the affected manifests mottled pigmentation with intermingled hyper and hypopigmented macules. Nov 05, 2017 dyschromatosis universalis hereditaria hypo and hyperpigmented macules occurring in a generalized form in first few years of life can involve palms, soles and mucous membranes no spontaneous regression with age various cutaneous and noncutaneous disorders reported to coexist 38.
Dermatopathia pigmentosa reticularis with beard alopecia. A rare case of foveal hypoplasia with dyschromatosis universalis. Dyschromatosis universalis hereditaria is a rare genodermatosis characterized by reticulate hyper and hypo pigmentated macules in a generalized distribution. It has been associated with mutations in genes sash1 and abcb6. Dyschromatosis universalis hereditaria genetic and rare. Dyschromatosis universalis hereditaria duh is a rare genodermatosis mainly described in asian subjects. Histopathological and immunohistochemical analysis of lesions from the. It is characterized by appearance of pinpoint to peasized hypo and hyperpigmented macules distributed in a reticulated pattern over the trunk and limbs within the first few years of life. Dyschromatosis universalis hereditaria duh is a congenital dyschromatosis that usually shows autosomal dominant inheritance. Jun 01, 2006 pubmed is a searchable database of medical literature and lists journal articles that discuss dyschromatosis symmetrica hereditaria 1.
The condition primarily affects the skin and has rarely been associated with neurologic manifestations. Mottled pigmentation with neuropathy, an enigma solved. This paper presents a female patient with typical dermatological lesions, but only diagnosed in adulthood. Dyschromatosis universalis hereditaria duh is usually an autosomal dominantly. Abstract dyschromatosis universalis hereditaria duh is a rare disease that is inherited both in autosomal dominant and autosomal recessive patterns. In this study, we investigated a large fivegeneration chinese family with duh.
Dyschromatosis universalis hereditaria duh is a clinically heterogeneous disorder that shows generalized mottled pigmentation. The oral mucosa and tongue also showed mottled pigmentation. Dyschromatosis universalis hereditaria is a rare genodermatosis reported initially and. Dyschromatosis universalis hereditaria duh is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Dyschromatosis symmetrica hereditaria dsh is a rare. Mutations in abcb6 cause dyschromatosis universalis hereditaria. Request pdf dyschromatosis universalis hereditaria dyschromatosis universalis hereditaria is an infrequently occurring genodermatosis with a peculiar pigmentary change, consisting of varying. Sporadic case of dyschromatosis universalis hereditaria. Pdf familial gigantic melanocytosis mona fawzy academia. Dyschromatosis universalis hereditaria request pdf. We report first case of this disorder from northern pakistan with positive family history. There are three major categories of dyschromatosis.
Three mutations in sash1 cause the pathogenesis of. Dyschromatosis symmetrica hereditaria dsh is a rare genodermatosis characterized by various sizes of both hyper and. Wir berichten uber einen 30jahrigen patienten mit dyschromatosis universalis hereditaria, einer extrem seltenen angeborenen pigmentstorung. Dyschromatosis universalis hereditaria is a rare genodermatosis which has been reported most often from japan. Dyschromatosis universalis hereditaria was first described in 1929 by toyamo in japan. Discussionduh is one of the dyschromatoses, a group of rare hereditary skin disorders, characterized by the presence of small, irregularly shaped hyperpigmented and hypopigmented macules. Sethuraman g, srinivas cr, dsouza m, thappa dm, smilesl. Resources dyschromatosis universalis hereditaria not supplied.
We describe two tunisian cases of dyschromatosis universalis hereditaria in a 3yearold and a 3monthold girl. Dyschromatosis universalis hereditaria duh is a pigmentary disorder of rare occurence comprising both hyperpigmented and hypopigmented macules forming an irregular pattern. Skin biopsy was done from both hyperpigmented and hypopigmented lesions. Dyschromatosis symmetrica hereditaria of late onset.
Dyschromatosis universalis hereditaria with renal failure. Dyschromatosis universalis hereditaria duh is a pigmentary genodermatosis characterized by a mixture of hyperpigmented. We have reported 20 different mutations of the adenosine deaminase acting on rna 1 gene adar1 in patients with dsh since we had clarified that the disease is caused by a mutation of the adar1 gene in 2003. Dyschromatosis universalis hereditaria duh is a rare genodermatosis characterized by hypo and hyperpigmented macules with a reticulated pattern, giving an overall impression of mottling, over the trunk and limbs. Histopathology, duh shows a focal increase or decrease in melanin. It has been disorder including her sister, father, 5 out of 7 paternal described almost exclusively in asian families. A case of sporadic dyschromatosis universalis hereditaria.
Familial case and ultrastructural skin investigation. Dyschromatosis universalis hereditaria, dyschromatosis symmetrica hereditaria abstract dyschromatosis universalis hereditaria is a rare genodermatosis, first reported from japan. Histopathological examination from both the samples showed circumscribed foci of epidermal proliferation as thin, elongated rete ridges with antler. Dyschromatosis universalis hereditaria duh was first generations of her family had a similar pigmentary reported by jehikawa and hiraga in 1933. Dyschromatosis universalis hereditaria wiley online library. Dyschromatosis universalis hereditaria duh is a rare genodermatosis characterized by hyper and hypopigmented macules which form a reticulate or mottled pattern. Dec 01, 2011 abstract dyschromatosis universalis hereditaria duh is a rare disease that is inherited both in autosomal dominant and autosomal recessive patterns. A rare case of foveal hypoplasia with dyschromatosis. A diagnosis of dyschromatosis universalis hereditaria was made based on history, clinical morphology and histopathology. Mar 22, 2019 al hawsawi k, al aboud k, ramesh v, al aboud d. The lesions begin in the firstto second decade and are classically non progressive. Duh is a heterogeneous disease and a small portion of patients carry the abcb6 variant. Deonizio 1 dermatology department, federal university of parana, curitiba, pr, brazil pathology department, federal university of parana.
1461 1346 348 1453 590 751 1618 738 587 594 1285 228 1606 897 1446 1292 747 1796 635 374 843 566 1097 575