Presentation
Figure 1: (a) Symmetrically distributed hyper- and hypopigmented macules present over limbs of three siblings. [pigmentinternational.com]
We report a case of DUH in a 13-year-old boy presenting with oral leukokeratosis, with a review of the literature exploring the differential diagnoses. [pesquisa.bvs.br]
DUH presents in a fashion similar to that of a variety of reticulate and pigmentary dermatoses, some of which are associated with precancerous entities and other comorbidities. [ncbi.nlm.nih.gov]
Abstract Author(s): 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 [ijmrhs.com]
Abstract Dyschromatosisuniversalishereditaria is an autosomal dominant inherited rare genodermatosis where in patient presents with hypopigmented and hyperpigmented macules of varying sizes in a reticulate pattern. [scopemed.org]
Entire Body System
- Nail Abnormality
There was no abnormality of oral mucosa or nails. Abdominal examination was normal. No mass could be palpated by bimanual palpation. Neurological examination was also normal. [karger.com]
Apart from a history of associated hyperhidrosis, the patient showed no other abnormalities in palms, soles, nails and mucous membranes. Systemic examination revealed neither deafness, cataract, neurological abnormalities nor history of seizures. [clinical-pediatrics-dermatology.imedpub.com]
Jaw & Teeth
- Gingival Fibroma
[…] toe, gingival fibromas, and pitting of dental enamel. [ijdvl.com]
Skin
- Hyperpigmentation in Sun-Exposed Areas
hypo-/hyperpigmentation, poikiloderma sun-exposed areas skin cancers, photophobia, keratitis, deafness, mental retardation Chronic arsenic toxicity acquired guttate hypopigmentation superimposed on hyperpigmentation any part of the body skin cancers [docksci.com]
- Abnormal Sweating
sweating, adermatoglyphia, and palmoplantar keratoderma Dyskeratosis congenita – idiopathic pulmonary fibrosis, nail dystrophy, palmoplantar hyperkeratosis, premalignant leukoplakia, progressive pancytopenia, telangiectasias Acquired pigmentation disorders [visualdx.com]
- Shagreen Patch
Shagreen patch (connective tissue nevus) 5. Multiple retinal nodular hamartomas 6. Cortical tuber 7. Subependymal nodule 8. Subependymal giant cell astrocytoma 9. Cardiac rhabdomyoma, single or multiple 10. Lymphangiomyomatosis 11. [ijdvl.com]
Eyes
- Aniridia
Heterozygous missense mutations (p.L811V and p.A57T) in ABCB6 caused iris coloboma, aniridia, chorioretinal coloboma [ 14 ]. The phenotypes might be explained by haploinsufficiency. [journals.plos.org]
Neurologic
- Global Developmental Delay
She also had a history of generalized epileptic seizures since the age of 3 years, mild global developmental delay, and a learning disorder. [ijdvl.com]
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]
X-Ray
- Multiple Renal Cysts
Multiple renal cysts Definite tuberous sclerosis complex is diagnosed by the presence of either 2 major features, or 1 major feature plus 2 minor features. Probable tuberous sclerosis complex is indicated by 1 major feature plus 1 minor feature. [ijdvl.com]
Other Test Results
- Cortical Tubers
Cortical tuber 7. Subependymal nodule 8. Subependymal giant cell astrocytoma 9. Cardiac rhabdomyoma, single or multiple 10. Lymphangiomyomatosis 11. Renal angiomyolipoma Minor features 1. Multiple randomly distributed pits in dental enamel 2. [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]
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]
Sep 7th, 2018 - Although existing psoriasis treatments are effective and well tolerated in many patients, there is still a need for new effective targeted treatment options. [allmedx.com]
Treatment of erythromelanosis follicularis faciei et colli using a dual-wavelength laser system: a split-face treatment. Dermatol Surg 2010; 36:1344. Inamadar AC, Palit A, Sampagavi VV, et al. [menopause.medicclub.info]
Prognosis
Prognosis - Dyschromatosis universalis hereditaria Not supplied. Treatment - Dyschromatosis universalis hereditaria Not supplied. Resources - Dyschromatosis universalis hereditaria Not supplied. [checkorphan.org]
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. [bioportfolio.com]
Summary Background Subtypes of inherited epidermolysis bullosa (EB) vary significantly in their clinical presentation and prognosis. Establishing an accurate diagnosis is important for genetic counselling and patient management. [scinapse.io]
Tacrolimus has been reported as speeding resolution. [16] In exceptionally severe cases PUVA therapy may be considered. [17] Prognosis The patches of pityriasis alba may last from 1 month to about one year, but commonly on the face last a year. [medbox.iiab.me]
Development of cell morphologic and molecular variables in melanoma prognosis (H.R. Byers, M.C. Mihm Jr.). A videomicroscopic approach to malignant melanoma (R Akasu et al. ). Treatment of malignant melanoma. [espcr.org]
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]
Although the precise etiology of this disorder is not yet known, the clinicopathological findings implicate an inherent abnormality of melanosomes or melanin processing. We describe a case in a young Nigerian girl. [ncbi.nlm.nih.gov]
The etiology of this disorder is not yet known. DUH is characterized by mixtures of hyperpigmented- and hypopigmented macules all over the body. Skin lesions are usually present in the first years of life. [sparrho.com]
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]
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]
PubMed EJERCICIO Y LA DETECCION DEL MAL AGUDO DE MONTAÑA GRAVE EJERCICIO Y LA DETECCION DEL MAL AGUDO DE MONTAÑA GRAVE NIHPA Author Manuscripts. 2010; 70(1)3 Epidemiological and clinical aspects of certain venomous animals of Spain. [ncbi.nlm.nih.gov]
"Epidemiological survey of skin diseases in schoolchildren living in the Purus Valley (Acre State, Amazonia, Brazil)". Dermatologica. 163 (1): 78–93. doi: 10.1159/000250144. PMID 7274519. Abdel-Hafez K, Abdel-Aty MA, Hofny ER (2003). [medbox.iiab.me]
Diagnosis and Management of Dermal Melanocytosis View Table | Favorite Table | Download (.pdf) Table 75-1 Differential Diagnosis and Management of Dermal Melanocytosis Nevus of Ota Nevus of Ito Mongolian Spot Nevus of Hori Dermal Melanocyte Hamartoma Epidemiology [accessmedicine.mhmedical.com]
A clinico-epidemiological study of macular amyloidosis from north India. Indian J Dermatol 2012; 57:269. Kumakiri M, Hashimoto K. [menopause.medicclub.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]
In: The Pigmentary System: Physiology and Pathophysiology, 2nd ed, Nordlund JJ, Boissy RE, Hearing VJ, et al (Eds), Blackwell Publishing Ltd, Malden, MA 2006. p.282. Taylor SC. [menopause.medicclub.info]
Melanogenesis and the Malignant Melanoma: Biochemistry, Cell Biology, Molecular Biology, Pathophysiology, Diagnosis and Treatment Edited by: Y. Hori, V.J. Hearing, J. Nakayama. [espcr.org]
Recognitionof further cases may help elucidate the aetiology of thiscondition and give insight into the pathophysiology of bothpigmentation disorders and epileptic encephalopathies.Keywords Epileptic encephalopathy. [docslide.us]
Prevention
[…] universalis hereditaria * Aplasia cutis congenita - epibulbar dermoids - skin atrophy * Arthrogryposis - atrophic tracts of skin * Atrophoderma vermiculata - skin atrophy * Barber-Say syndrome - atrophic skin * Blegvad-Haxthausen syndrome - skin atrophy Prevention [checkorphan.org]
The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer. [gulfdoctor.net]
The TJEM also covers the fields of disaster-prevention science, including earthquake archeology. Submitted manuscripts will be screened for plagiarism with Similarity Check ( https://www.crossref.org/services/similarity-check/ ). [jstage.jst.go.jp]
The c.3203-2A>G mutation is located in the acceptor splice site and could prevent proper splicing of the transcript. [vdocuments.mx]
Nov 23rd, 2018 - Probiotic supplementation in early life may be effective in preventing atopic dermatitis (AD); however, results regarding efficacy have been controversial. [allmedx.com]