Dyschromatosis universalis hereditaria duh belongs to a group of congenital diffuse reticulate pigmentary disorders characterised by both hypo and hyper pigmented macules. Full text dyschromatosis symmetrica hereditaria with. Resources dyschromatosis universalis hereditaria not supplied. Mutations in abcb6 cause dyschromatosis universalis hereditaria. They are chronologically divided into three groups see table 1. Dyschromatosis symmetrica hereditaria with neurological. A case report of dyschromatosis universalis hereditaria. We report an indian patient with duh having involvement of palms and soles, flexures and ocular mucosa. Table 1 differential diagnosis of dyschromatosis universalis hereditaria. 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. 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.
After excluding the two known duh loci, we performed genomewide linkage analysis and. Dyschromatosis universalis hereditaria duh and dyschromatosis. Dyschromatosis universalis hereditaria duh is a rare disease that is. We report two unrelated indian patients with dyschromatosis universalis hereditaria, who had generalized and progressive reticulate hyper. The histopathology shows a focal increase or decrease in. 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. This definition appears somewhat frequently and is found in the following acronym finder categories. Case report dyschromatosis universalis hereditaria. Dyschromatosis universalis hereditaria rai r, kaur i, handa s. 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. 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. 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.
Lavanya 5 1 assistant professor, department of dermatology, stanley medical college, chennai, tamil nadu, india. About 20 diseases of the skin were first described in japan. 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. In this study, we investigated a large fivegeneration chinese family with duh. The patients presented with hypo and hyperpigmented macules over the body, resembling dyschromatosis universalis hereditaria in addition to punctuate palmoplantar keratosis. 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 universalis hereditaria is an infrequently occurring genodermatosis with a peculiar pigmentary change, consisting of varying sized hyperpigmented macules mingled with hypopigmented lesions to give an overall impression of mottling. It rarely affects the face and distal parts of fore. However, subsequent cases have been reported from other countries. Dyschromatosis universalis hereditaria duh is a rare disease that is inherited both in autosomal dominant and autosomal recessive patterns. 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. Dyschromatosis universalis hereditaria is a rare genodermatosis which has been reported most often from japan.
Light brown discoloration of the hair with normal palms and soles, mucus membranes, teeth, and nails were reported in five members of an arabic family 5. Dyschromatosis universalis hereditaria in three siblings. Dyschromatosis universalis hereditaria duh is a rare genodermatosis reported initially and mainly in japan. Dyschromatosis symmetrica hereditaria dsh is a rare pigmentary genodermatosis characterized by hyper and hypopigmented macules on the face and dorsal aspects of the extremities. Aug 01, 2019 pubmed is a searchable database of medical literature and lists journal articles that discuss dyschromatosis universalis hereditaria. Mutations in abcb6 cause dyschromatosis universalis. Cole disease is a genodermatosis of pigmentation following a strict dominant mode of inheritance.
Dyschromatosis universalis hereditaria is a rare genodermatosis that is commonly encountered in japan. Sep 01, 2002 summary dyschromatosis universalis hereditaria is a clinically heterogenous disorder. A case report carounanidy udayashankar md, amiya kumar nath md dermatology online journal 17 2. The generalized form of this disease is called dyschromatosis universalis hereditaria. A case of sporadic dyschromatosis universalis hereditaria. Dyschromatosis universalis hereditaria with involvement of. Dyschromatosis universalis hereditaria duh is a rare genodermatosis. Dyschromatosis symmetrica hereditaria, dyschromatosis, reticulated acropigmentation of dohi. Dyschromatosis universalis hereditaria sethuraman 2002. A case report of dyschromatosis universalis hereditaria duh with primary ovarian failure pof n. Dyschromatosis universalis hereditaria duh is a rare genodermatosis, which has been reported most often from japan. Pubmed is a searchable database of medical literature and lists journal.
Dyschromatosis universalis hereditaria duh is a rare genodermatosis reported initially and mostly in japan. However, subsequent cases have been reported from other. It is characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. Dyschromatosis symmetrica hereditaria, dyschromatosis, reticulated acropigmentation of dohi introduction dyschromatosis symmetric hereditaria dsh characterized by the presence of hyper and hypopigmented macules arranged in a reticular pattern. Dyschromatosis universalis hereditaria is a rare genodermatosis reported initially and mainly in japan. Herein we reported unusual case of dsh, being a late onset as well its localization to the feet only.
A case of dyschromatosis universalis hereditaria with. Pigmentation appears in a generalized distribution. Poikilodermalike amyloidosis is associated with light sensitivity, short stature and blister formation or palmoplantar hyperkeratosis. Dyschromatosis universalis hereditaria duh is a rare genodermatosis characterized by hyper and hypopigmented macules forming a reticulate pattern. It is a rare entity in india reported mainly in the east asian population. 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. Rooks textbook of dermatology is the most comprehensive work of reference available to the dermatologist. We describe two tunisian cases of dyschromatosis universalis hereditaria in a 3yearold and a 3monthold girl. Summary dyschromatosis universalis hereditaria is a clinically heterogenous disorder. Duh stands for dyschromatosis universalis hereditaria. We report a case of dyschromatosis universalis hereditaria from north east india who presented with multiple asymptomatic hyperpigmented and hypopigmented lesions over trunk and extremities since birth with positive family history which was later confirmed by histopathology.
It is generally an autosomal dominant disorder but recessive. Case report ddyschromatosis universalis hereditaria. Carolinebalvedigaiewski, 1 sergiozunedaserafini, 1 betinawerner, 2 andjanyanam. Dyschromatosis universalis hereditaria genetic and rare. Wir berichten uber einen 30jahrigen patienten mit dyschromatosis universalis hereditaria, einer extrem seltenen angeborenen pigmentstorung. The condition primarily affects the skin and has rarely been associated with neurologic manifestations. Histopathology of skin shows variable epidermal pigmentation with some pigmentary incontinence.
Jun 01, 2006 pubmed is a searchable database of medical literature and lists journal articles that discuss dyschromatosis symmetrica hereditaria 1. Dsh generally shows an autosomal dominant pattern of. Dyschromatosis symmetrica hereditaria of late onset. Dyschromatosis in a child a case report and differential diagnosis. Dyschromatosis universalis hereditaria with involvement of palms. Sethuraman g, srinivas cr, dsouza m, thappa dm, smiles l. Dyschromatosis universalis hereditaria request pdf. Dyschromatosis universalis hereditaria duh is a rare genodermatosis reported. Mar 01, 2014 dyschromatosis universalis hereditaria. Covering all aspects of skin disease from basic science through pathology and epidemiology to clinical practice, the text is recognized for its unparalleled coverage of diagnosis. It is characterized by appearance of pinpoint to peasized hypo and hyperpigmented macules distributed in a reticulated pattern over the. Most cases of this condition have been reported from east asian countries, including japan, china and taiwan.
Dyschromatosis symmetrica hereditaria dsh is a rare pigmentary genodermatosis, which is acquired by autosomal dominant inheritance with high penetrance. 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 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. Dyschromatosis universalis hereditaria rooks textbook of. Dyschromatosis symmetrica hereditaria and rna editing. Duh is characterized by mixtures of hyperpigmented and hypopigmented macules all over the body.
The oral mucosa and tongue also showed mottled pigmentation. Dyschromatosis symmetrica hereditaria dsh, also called symmetric dyschromatosis of the extremities and symmetric or reticulate acropigmentation of dohi komaya, 1924, is characterized by hyperpigmented and hypopigmented macules on the face and dorsal aspects of the extremities that appear in infancy or early childhood. 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. Here, we present a case of duh with involvement of the palms. Nishikawa, dyschromatosis symmetrica hereditaria reticulate acropigmentation of dohi. We report a case of duh in a child with no family history but cosmetic disfigurement and psychological impairment were the presenting symptoms. Lan1,2,3, 1 department of dermatology, kaohsiung medical university hospital, kaohsiung, taiwan 2 department of dermatology, kaohsiung municipal tatung hospital, kaohsiung, taiwan. Dyschromatosis universalis hereditaria has been reported in association with dowlingdegos disease, xlinked ocular albinism, tuberous sclerosis, and short stature with high tone deafness. Dsh is a genetic pigmentary skin condition of autosomal dominant inheritance characterized by presence of mixture of hypopigmented and hyperpigmented macules on dorsae of hands and feet. Click on the link to view a sample search on this topic. Dyschromatpsis symmetrica hereditaria dsh, acropigmentation of dohi, and reticulate acropigmentation of dohi are all synonyms of one condition. Dyschromatosis universalis hereditaria duh is usually an autosomal dominantly inherited disorder characterized by the presence of hypopigmented as well as hyperpigmented macules. Online mendelian inheritance in man omim 127500 is a rare autosomal dominant genodermatosis initially described by ichikawa and hiraga in 1933. Histopathological examination of a skin biopsy taken from the hyperpigmented lesions revealed.
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 references. Most of the diseases in this group are dyskeratinized or dyscolorated disorders seen in oriental. 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 hereditaria springerlink. A 30yearold female presented with 15year history of asymptomatic slowly progressing skin lesions on her feet. Dyschromatosis symmetrica hereditaria also known as reticulate acropigmentation of dohi, and symmetrical dyschromatosis of the extremities is a rare autosomally inherited dermatosis.
Histopathology showing no evidence of increased epidermal pigmentation or. Pubmed is a searchable database of medical literature and lists journal articles that discuss dyschromatosis universalis hereditaria. Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family. Dsh is a rare genodermatosis, autosomal dominant with high penetrance, but. Most of the first skin diseases were described in japanese before the end of world war ii, and were not familiar in other countries until recently, except for nevus of ota. Dyschromatosis symmetrica hereditaria dsh, omim 127400, initially known as reticulated acropigmentation of dohi, 1 was first described by toyama 2 in 1929.
Here we report four cases of duh and one case of dyschromatosis symmetrica hereditaria from india. Duh dyschromatosis universalis hereditaria acronymfinder. A series of five interesting cases from india namitha p. Dyschromatosis universalis hereditaria naik cl, singh g. Enpp1 mutation causes recessive cole disease by altering. Deonizio 1 dermatology department, federal university of parana, curitiba, pr, brazil. Dyschromatosis universalis hereditaria in three siblings bhat. This paper presents a female patient with typical dermatological lesions, but only diagnosed in adulthood. Pdf dyschromatosis universalis hereditaria with involvement of. Case report dyschromatosis symmetrica hereditaria of late onset. We report a case of duh in a south indian woman with a positive family history with cosmetic disfigurement and severe psychological impairment. Dyschromatosis universalis hereditaria is a rare genodermatosis reported initially and.
Department of pathology, chu farhat hached sousse, tunisia. Dyschromatosis universalis hereditaria is a rare genodermatosis characterized by hyper and hypopigmented macules in a reticulate pattern. Positional cloning locates the position of a diseaseassociated gene along the chromosome by a collection of methods including linkage analysis. A number of associated cutaneous and systemic diseases have been reported. Dyschromatosis symmetrica hereditaria and rna editing enzyme 109 the pathogenesis of dsh at that time, they used a technique called positional cloning to identify the causative gene. Histopathology showed similar features as that of the first case. Mottled pigmentation with neuropathy, an enigma solved. Infrequent genodermatoses in india article pdf available in indian journal of human genetics 194. Dyschromatosis symmetrica hereditaria dsh is a rare genodermatosis characterized by various sizes of both hyper and.
Intriguingly, the palms and soles were also affected with a diffuse. Dyschromatosis symmetrica hereditaria 1 genetic and rare. Case report dyschromatosis symmetrica hereditaria of late. Pubmed is a searchable database of medical literature and lists journal articles that discuss dyschromatosis symmetrica hereditaria 1. Although initial and subsequent reports are from japan, later it has been reported from other countries. Rare case report of dyschromatosis universalis hereditaria. A case report of dyschromatosis universalis hereditaria duh. In this study, we investigated eight patients affected with an overlapping genodermatosis after recessive inheritance. Dyschromatosis symmetrica hereditaria and rna editing enzyme. Pdf dyschromatosis universalis hereditaria is a rare genodermatosis characterized by hyper and.
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