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Dyschromatosis Universalis Hereditaria 1


Presentation

  • WANG Gang, LI Chun-ying, GAO Tian-wen, LIU Yu-feng (Department of Dermatology, Xijing Hospital, the Fourth Military Medical University, Xi' an 710032, China) Two cases of dyschromatosis universalis hereditaria from one family are presented.[en.cnki.com.cn]
  • Obtain thorough guidance on clinical presentation and therapy for a full range of common and rare skin diseases.[books.google.de]
  • They presented to our department with asymptomatic progressive mottled pigmentation over the trunk and limbs, which had been noted since birth and had become more noticeable with age. Palms and soles were also affected in the first case.[dermatology.cdlib.org]
  • We present a 35-year-old Woman , which presented with Flexural Hyperpigmentation considerate as acanthosis nigricans [19] .[gulfdoctor.net]
Epilepsy
  • There was no history of photosensitivity, epilepsy or any other systemic complaints. The child had grade II mal nutrition and second degree consanguinity. There was no family history of similar skin lesions.[e-ijd.org]
  • She also had associated grandmal epilepsy since early childhood. The common origin of epidermis and brain from ectoderm suggests that the association of epilepsy and dyschromatosis universalis hereditaria in this patient is more than fortuitous.[scinapse.io]
  • A large number of systemic associations have been reported with DUH including tuberous sclerosis, X-linked ocular albinism, grand mal epilepsy, glaucoma, cataract, learning difficulties, insulin-dependent diabetes mellitus, teeth abnormalities, and small[ejdv.eg.net]
  • […] been reported to be associated with a wide range of cutaneous and systemic diseases such as tuberous sclerosis, learning difficulties, mental retardation [ 4 ], short stature and high tone deafness [ 11 ], X- Linked oculo-cutaneous albinism [ 12 ], epilepsy[jcdr.net]
Nail Abnormality
  • Except for skin lesions, there is no other common associated condition in DUH; however, there have been various reports of an association with short stature and high-tone deafness, seizure, mental retardation, hair and nail abnormalities, ocular abnormalities[karger.com]
  • abnormalities [ 10 ].[clinical-pediatrics-dermatology.imedpub.com]
Disability
Photophobia
  • There was no history of photophobia or photosensitivity. The girl was born to healthy, second-degree consanguineous parents, following an uneventful pregnancy. No family members had a similar appearance.[dermatology.cdlib.org]
  • History of photosensitivity or photophobia was absent. There was no history of consanguinity among the parents and none of the family members were similarly affected.[ijpd.in]
  • There was no history of photosensitivity or photophobia. There was no history of preceding dermatosis or associated systemic involvement. He was born to healthy non-consanguineous parents following an uneventful pregnancy.[idoj.in]
  • .  Recurrent respiratory infections  Failure to thrive  Severe photophobia due to corneal dyskeratosis  Severe gastrointestinal disorders  Hypohidrosis Mutation in the PDR gene in a 40 Mb interval of Xp22-p21 Histopathology show amyloid deposits[slideshare.net]
Hyperpigmentation
  • Citing Literature Number of times cited according to CrossRef: 30 Ding’an Zhou, Jiawei Zeng, Xing Zeng, Yadong Li, Zhixiong Wu, Xin Wan, Pingshen Hu and Xiaodong Su, A Novel P53/POMC/Gas/SASH1 Autoregulatory Feedback Loop and Pathologic Hyperpigmentation[doi.org]
  • However, the underlying mechanism of molecular regulation to cause this hyperpigmentation disorder still remains unclear [7] .[gulfdoctor.net]
  • The father and his sister had reticular hyperpigmentation on flexor surfaces, whereas the daughter and son had generalized hyperpigmentation with numerous hypopigmented or erythematous macules and papules on the trunk and limbs.[scienceopen.com]
  • It is differentiated from segmental neurofibromatosis and partial unilateral lentiginosis by the mottled hyperpigmentation and hypopigmentation [ 9 ].[clinical-pediatrics-dermatology.imedpub.com]
  • Amyloidosis cutis dyschromica causes slowly progressive localised hyperpigmentation and hypopigmentation (dyschromica or dyschromatosis).[dermnetnz.org]
Eruptions
  • […] lines [1] Blood transfusion-adverse effects [2] Bowen's disease [1] Breast neoplasms [1] Bullous hemorrhagic dermatoses [1] Chemical peel [1] Childhood bullous pemphigoid [1] Chromoblastomycosis [2] CRF [1] Culture and sensitivity [1] Cutaneous drug eruption[dspace.sdmmedicalcollege.org]
  • Ensure that you’re up to speed with the hottest topics in dermatology, including drug eruptions from new medications, new therapeutics for melanoma, as well as viral infections, biologic agents, and newly described gene targets for treatment.[books.google.de]
  • […] pigmentation 76.  Lesions are intensely pruritic and predominantly involves trunk  Many patients experience spontaneous resolution of eruptions after a few weeks  Frequent relapses 77.[slideshare.net]
  • In the summer or after sun exposure, the eruptions would become pronounced. Examination of the proband’s mother revealed diffuse hypopigmented and hyperpigmented macules on the backs of her hands and feet.[jamanetwork.com]
Dermatitis
  • Stay up to date with recent society guidelines, including the latest from the American Academy of Dermatology, covering a variety of conditions such as melanoma and atopic dermatitis.[books.google.de]
  • I Bukhari Journal of drugs in dermatology: JDD 3 (6), 687-688 , 2004 13 2004 Pityriasis rosea with palmoplantar plaque lesions I Bukhari Dermatology online journal 11 (1) , 2005 12 2005 Successful treatment of chronic persistent vesicular hand dermatitis[scholar.google.com]
  • Histopathology  Not diagnostic  Heavily pigmented epidermis  Basal layer degeneration  Interface dermatitis  Dermal pigmentary incontinence 44. Treatment  No specific treatment exists  Palmoplantar keratoderma: Topical keratolytics 45.[slideshare.net]
Alopecia
  • Some features of this site may not work without it. 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z Or enter first few letters: Order: Results: Now showing items 1-20 of 129 Next Page Subject Acquired perforating dermatosis [1] Alopecia areata[dspace.sdmmedicalcollege.org]
  • DPR vs NFJS DPR NFJS  Diffuse alopecia  Reticulate pigmentation fades by puberty  Palmoplantar keratoderma  Nail dystrophy  Enamel defects 50. Genetics 51.[slideshare.net]
  • 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[clinical-pediatrics-dermatology.imedpub.com]
Hypopigmented Skin
  • skin patches and hyperpigmented/hypopigmented macules.[selfdecode.com]
  • (D-F) A melanocyte from the normal control’ skin tissue, from the proband’s hyperpigmented and from hypopigmented skin tissues observed by electron microscopy.[journals.plos.org]
  • Abstract Dyschromatosis is a pigmentary genodermatosis which presents with hyper and hypopigmented skin lesions giving a mottled appearance. It is a rare entity in India reported mainly in the East Asian population.[e-ijd.org]
Suggestibility
  • Collectively, these observations suggest that DUH is a heterogeneous disorder of increased production and transport of melanosomes caused by SASH1 mutation together with melanocyte maldistribution.[precedings.nature.com]
  • A second locus for dyschromatosis was mapped on chromosome 6q24.2-q25.2 in two Chinese families initially reported to be affected with DSH, but later suggested to have autosomal dominant DUH.[eprints.hud.ac.uk]
  • A second locus for dyschromatosis was mapped on chromosome 6q24.2‐q25.2 in two Chinese families initially reported to be affected with DSH, but later suggested to have autosomal dominant DUH.[doi.org]
  • It has been suggested in the past that DUH is a disorder of melanocyte number.[ijdvl.com]
  • Our results suggest that DUH may be a disorder of melanosome production and distribution in epidermal melanin units rather than a a disorder of melanocyte number [6].[wikigenes.org]
Incontinence
  • Histological exam revealed basal layer hypermelanosis with pigmentary incontinence in some areas.[dermatology.cdlib.org]
  • , there was no evidence of increased epidermal pigmentation or pigmentary incontinence.[idoj.in]
  • The other system examination was normal Histopathological examination showed pigment incontinence with collagenisation of the dermis.[scopemed.org]
  • The histopathology typically shows a focal increase or decrease in melanin content of the basal layer (depending on the type of the lesion biopsied) and occasionally pigmentary incontinence.[pigmentinternational.com]
  • Biopsy of the lesions showed basal layer hypermelanosis with pigmentary incontinence in some areas. The paternal grandmother of these children was also seen to have similar skin problems.[cags.org.ae]

Workup

  • The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative.[e-ijd.org]

Treatment

  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.de]

Prognosis

  • The heterozygosity for the DSRAD knockout causes embryonic lethality in mice, whereas patients with DSH, which is localized specifically on the backs of the hands and tops of the feet, have a good prognosis. 23 Miyamura et al 11 speculated that when melanoblasts[jamanetwork.com]

Etiology

  • The exact etiology of this disorder is unknown. However, studies seem to point towards an inherent abnormality of melanosomes or a defect in melanocyte processing. DUH occurs most commonly among the Japanese.[cags.org.ae]
  • Etiology A mutation has been identified in the double-stranded RNA-specific adenosine deaminase ( ADAR ) gene. Genetic counseling Transmission is autosomal dominant.[orpha.net]
  • Only genetic counselling is advised because of the recent reports of genetic etiology. This case of DUH is reported because of its rarity.[jmgims.co.in]
  • The etiology is unknown.[pigmentinternational.com]
  • The etiology of this disorder is not yet known. A variable autosomal mode of inheritance of DUH has been described. No family members had a similar appearance in our two cases. Some clinicians have suggested that DSH might be a subtype of DUH.[dermatology.cdlib.org]

Epidemiology

  • This chapter covers the epidemiology, pathophysiology, clinical presentation, histopathology, differential diagnosis, and treatment of both common and rare genetic hyperpigmentation disorders.[link.springer.com]
  • Amyloidosis cutis dyschromica in two siblings and review of the epidemiology, clinical features and management in 48 cases. Australas J Dermatol 2016; 57: 307–11. DOI: 10.1111/ajd.12342. PubMed Qiao J, Fang H, Yao H. Amyloidosis cutis dyschromica.[dermnetnz.org]
  • Epidemiology  Rare group of disorders  Incidence and prevalence: Not known  Most cases: Japan  Paucity of literature might be due to underreporting of cases  Mostly autosomal dominant with variable degrees of penetrance 6.[slideshare.net]
Sex distribution
Age distribution

Pathophysiology

  • This chapter covers the epidemiology, pathophysiology, clinical presentation, histopathology, differential diagnosis, and treatment of both common and rare genetic hyperpigmentation disorders.[link.springer.com]

Prevention

  • The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer.[gulfdoctor.net]
  • Patient was started on cyclical hormonal supplements for development of secondary sexual characters and prevention of osteoporosis after consultation with an endocrinologist and gynaecologist. Genetic counselling was given.[jcdr.net]
  • Treatment  Exposure to heat should be limited, and sufficient hydration is recommended  Sports-related exercise should be restricted  Tooth care is required to prevent early dental caries 52.[slideshare.net]
  • Author Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public[emedicine.medscape.com]

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