The father presented large symmetrical hypopigmented vitiligo-like macules. In this patient, mottled pigmentation and depigmentation of the extremities had been present since childhood. [medicaljournals.se]

Yes • For any images presented appropriate consent has been obtained from the subjects. [jcdr.net]

It is a rare autosomal dominantly inherited genodermatosis, presenting as mottled admixtures of hypopigmented and hyperpigmented macules on the dorsa of the extremities. It is predominantly found among persons of Oriental origin. [ajol.info]

The presentation of symptoms occur in young children Both males and females may be affected Individuals of all racial and ethnic groups may be affected However, a majority of the cases have been reported from China and Japan. [dovemed.com]

A 2-year old boy, born to non-consanguineous parents presented with hyperpigmented and hypopigmented spots on his hands and feet that began at 3 months of age. [ijdvl.com]

• Developmental Disorder

  Category Skin disease Brite Human diseases [BR:br08402] Skin diseases Skin and soft tissue diseases H00880 Dyschromatosis symmetrica hereditaria Human diseases in ICD-11 classification [BR:br08403] 14 Diseases of the skin Genetic and developmental disorders [genome.jp]

• 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]

• Mental Deterioration

  This ADAR1 mutation could disturb RNA editing at Q/R sites of glutamate receptor in the brain and increase Ca(2+) influx into neurons, which is thought to induce dystonia and mental deterioration. [ncbi.nlm.nih.gov]

  Some complications of DSH have been reported and, intriguingly, several patients have been reported to develop neurological symptoms, such as dystonia and mental deterioration. [pubmed.ncbi.nlm.nih.gov]

  Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation. Mov Disord 2006;21:1510-3. Back to cited text no. 4 [ PUBMED ] [ FULLTEXT ] 5. Patrizi A, Manneschi V, Pini A, Baioni E, Ghetti P. [bioline.org.br]

• 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]

• Hyperreflexia

  […] mottled pigmentation (hypopigmentation, hyperpigmentation, and café-au- lait macules). [44] The other findings include absence of the thumbs, aplasia of the radius, severe hypoplastic anemia, thrombocytopenia, retinal hemorrhage, strabismus, generalized hyperreflexia [ijdvl.com]

• Lymphocytic Infiltrate

  The pathology sections showed skin tissue with mild hyperkeratosis, basal layer hyperpigmentation, obvious melanin incontinence, and scattered lymphocytic infiltration in the upper dermis (Figure 3). [cureus.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]

and in some cases, due to treatment also. [dovemed.com]

(September 2017) Treatment[edit] This section is empty. You can help by adding to it. (September 2017) See also[edit] Skin lesion References[edit] ^ RESERVED, INSERM US14-- ALL RIGHTS. [en.wikipedia.org]

To date, there is no satisfactory treatment for this dermatologic condition. Therefore, early diagnosis can prevent the application of ineffective treatments. [cureus.com]

As no definitive and effective treatment is available in this condition, the patient was treated conservatively with sun protection and sunscreen to decrease the contrast between hyperpigmented and hypopigmented lesions however the patient could not be [jcdr.net]

(Outcomes/Resolutions) The prognosis of Dyschromatosis Symmetrica Hereditaria 1 is dependent upon the severity of the signs and symptoms and associated complications. In most cases, the prognosis is favorable with adequate treatment. [dovemed.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 al11 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) Dyschromatosis Symmetrica Hereditaria 1 is a genetic disorder that is inherited in an autosomal dominant manner A mutation has been identified in the double-stranded RNA-specific adenosine deaminase (ADAR) gene Autosomal dominant: Autosomal [dovemed.com]

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 many of these disorders are diagnosed at or following the birth of the child. [dovemed.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. [agris.fao.org]

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]

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