Presentation
The father presented large symmetrical hypopigmented vitiligo-like macules. In this patient, mottled pigmentation and depigmentation of the extremities had been present since childhood. [ncbi.nlm.nih.gov]
It presents primarily in the Japanese, but has also been found to affect individuals from Europe, India and the Caribbean. This disease is caused by mutation in the double stranded RNA specific adenosine deaminase (ADAR1) gene. [en.wikipedia.org]
It phenotypically presents as pinpoint or pea- 8 Conclusion sized symmetrical mottled hypo- and hyperpigmented macules, typically in an acral distribution. [njpaediatrics.com]
Musculoskeletal
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Long Arm
This gene is located on the long arm of chromosome 1 (1q21). Skin lesion [en.wikipedia.org]
Genetics This disease is caused by mutation in the double stranded RNA specific adenosine deaminase ( ADAR1 ) gene. [2] This gene is located on the long arm of chromosome 1 (1q21) See also Skin lesion References James, William; Berger, Timothy; Elston [ipfs.io]
Genetics This disease is caused by mutation in the double stranded RNA specific adenosine deaminase ( ADAR1 ) gene. [ 2 ] This gene is located on the long arm of chromosome 1 (1q21) See also Skin lesion References Help improve this article Compiled by [gutenberg.us]
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Joint Swelling
Joint swelling and tenderness were not appreciated. Figure 1 Freckle-like brown macules and erythematous, indurated plaques with adherent scales. Figure 2 Reticulate hyperpigmented and hypopigmented macules on neck and upper chest. [dovepress.com]
Skin
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Hypopigmented Macule
In some Chinese cases, hyperpigmented and hypopigmented macules were scattered on the neck and chest, but among Japanese patients there were no similar skin lesions to be reported on these sites. [ncbi.nlm.nih.gov]
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Normal Hair
The keratinocytes of the hyperpigmented hair were larger than those of normal and hypopigmented hair and those of the normal hair were larger than those of the hypopigmented hair. [ncbi.nlm.nih.gov]
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Skin Patch
patches and hyperpigmented/hypopigmented macules. [selfdecode.com]
Psychiatrical
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Psychiatric Manifestation
manifestations. [3] Although a few cases of this condition have been reported from India, [7], [8], [9] we found only one previous report with associated neurological anomalies. [10] The exact etiology of the association with neurological manifestations [ijdvl.com]
Neurologic
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Neurologic Manifestation
Neurological manifestations have been reported to be associated with DSH in minority of cases. [6] Our patient has no neurological manifestations. [article.sapub.org]
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Abnormal Gait
He was able to stand without support and walked with an abnormal gait with inverted feet. A dystonic (hypertonic) posture was observed in both upper and lower limbs (right more than left) along with brisk deep tendon reflexes. [ijdvl.com]
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Rabies
El Darouti M, Marzouk SA, Fawzi M, Rabie M, El Tawdi A, Abdel Azziz M. Reticulate acropigmentation of Dohi: A report of two new associations. Int J Dermatol 2004;43:595-6 [ PUBMED ] [ FULLTEXT ] 8. James WD, Berger TG, Elston DM. [e-ijd.org]
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Behavior Problem
Till 18 months of age, he achieved normal developmental milestones but 6 months prior to presenting to us, the parents noted regression in language development and behavioral problems like unaccustomed laughing and crying. [ijdvl.com]
Treatment
The main treatment is by reassuring the patient. Camouflage, miniature-skin graft, and excimer laser therapy have all been tried for treatment of this condition. References [1] Muller CS, Tremezaygues L, Pfohler C, Vogt T. [article.sapub.org]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
The complications of Dyschromatosis Symmetrica Hereditaria 1 may include: Emotional stress Cosmetic concerns due to skin discoloration Complications may occur with or without treatment, and in some cases, due to treatment also. [dovemed.com]
Broaden your knowledge with updated information on serological diagnosis of pemphigus, TNF-I for hidradenitis suppurativa, the use of immunosuppressives for atopic dermatitis, excimer laser for the treatment of vitiligo and much more. [books.google.com]
Prognosis
Treatment and prognosis The disorder has a a poor prognosis and death is the rule, often in the third decade. [ijdvl.com]
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]
PubMed Santavy, Jiri 2010-06-01 Hemolytic disease in the newborn with its typical signs and poor prognosis has been known for centuries. [science.gov]
Etiology
Etiology A mutation has been identified in the double-stranded RNA-specific adenosine deaminase ( ADAR ) gene. Genetic counseling Transmission is autosomal dominant. [orpha.net]
Etiology A mutation has been identified in the double-stranded RNA -specific adenosine deaminase ( ADAR ) gene. Genetic counseling Transmission is autosomal dominant. [rarediseases.info.nih.gov]
Epidemiology
Pseudohypoaldosteronism type 2E Weaver syndrome Wolf-Hirschhorn syndrome Synonym(s): - Acropigmentation of Dohi Classification (Orphanet): - Rare genetic disease - Rare skin disease Classification (ICD10): - Diseases of the skin and subcutaneous tissue - Epidemiological [csbg.cnb.csic.es]
This chapter covers the epidemiology, pathophysiology, clinical presentation, histopathology, differential diagnosis, and treatment of both common and rare genetic hyperpigmentation disorders. [link.springer.com]
We sought to describe the epidemiology, clinical and dermoscopic features, and natural history of genital nevi in pediatric patients. We reviewed charts of 1159 children given the diagnosis of melanocytic nevi over 11 years. [allmedx.com]
Epidemiology of Congenital Disorders of Pigmentation Waardenburg syndrome (WS) is probably less frequent than OCA. [accessmedicine.mhmedical.com]
The association is not well supported by epidemiological studies either. It is fair to ask questions such as: "How often - in our everyday practice - do we see hyperpigmentation in axillary and other folds?" and "How often do we report it?". [guwsmedical.info]
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]
European Journal of Dermatology Gianluca Tadini, MD, Pediatric Dermatology Unit and Pediatric Clinic 1, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Italy Michela [bokus.com]
The two parts, physiology (science) and pathophysiology (clinical disorders), are complementary and annotated so that those reading one part can easily refer to relevant sections in the other. [libreriacortinamilano.it]
The pigmentary system: physiology and pathophysiology. 2 nd ed. United States: Blackwell Science; 2006. p. 780-808. 8. Chang MW. Disorders of Hyperpigmentation. In: Rapini Ronald P, Bolognia Jean L, Jorizzo, Joseph L, editors. Dermatology. 2 nd ed. [ijdvl.com]
Prevention
IVS5-1g a should prevent proper splicing of the transcript while c.3076C T leading to a missense mutation p.R1026W of the ADAR1 gene. [ncbi.nlm.nih.gov]
How can Dyschromatosis Symmetrica Hereditaria 1 be Prevented? Currently, Dyschromatosis Symmetrica Hereditaria 1 may not be preventable, since it is a genetic disorder. [dovemed.com]
This video presents a study on people’s willingness to adopt potential methods of preventing recurrent cellulitis. #cellulitis #prevention RT Eczema Society @eczemasociety : Spring's here & UV index rising! [bjdonline.com]
The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer. [gulfdoctor.net]
Feng2,WANG Xiao-peng1,XU Qing-qiang1,HUO Jia1,LI Xiao-li1,REN Jian-wen1,XIAO Sheng-xiang1,PENG Zhen-hui1(1.Department of Dermatology,The Second Hospital of Xi'an Jiaotong University,Xi'an 710004,China; 2.Shaanxi Provincial Center for Disease Control and Prevention [en.cnki.com.cn]