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 phenotypically presents as pinpoint or pea- 8 Conclusion sized symmetrical mottled hypo- and hyperpigmented macules, typically in an acral distribution. [njpaediatrics.com]

Biopsy from hyperpigmented macule showed melanocytes in all epidermal layers and were present in abundance in basal layer. [thinkscience.in]

In the present study, we report five cases of DSH and identify a distinct known mutation in each patient. Furthermore, we review previously described cases with the five ADAR1 mutations found in the present study. [jairo.nii.ac.jp]

• 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]

  The characteristic appearance of DSH is a mixture of hyperpigmented and hypopigmented macules of various sizes on the dorsal aspects of the hands and feet. [mdedge.com]

• 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]

• Joint Swelling

  She reported that her symptoms were associated with mild migratory joint pain, but with no associated redness, swelling, or muscle pain. There were no other remarkable systemic symptoms. [dovepress.com]

• 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 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]

• 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]

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 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]

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]

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]

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 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]

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]

Association Between Psoriasis and Sexual and Erectile Dysfunction in Epidemiologic Stud... Preview https://www.ncbi.nlm.nih.gov/pubmed/30304327 JAMA Dermatology; Molina-Leyva A, Salvador-Rodriguez L et. al. [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]

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]

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 https://t.co/swELHoOBhB RT Eczema Society @eczemasociety : Spring's here & UV index rising! [bjdonline.com]

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]

The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer. [gulfdoctor.net]

[…] minus' sign Virchow -triad Use Parentheses water AND (cup OR glass) Add an asterisk (*) at end of a word to include word stems Neuro* will search for Neurology, Neuroscientist, Neurological, and so on Use quotes to search for an exact phrase "primary prevention [readbyqxmd.com]