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Ectodermal Dysplasia - Cutaneous Syndactyly Syndrome

EDCS


Presentation

  • In the present study a novel form of ectodermal dysplasia syndrome, ectodermal dysplasia cutaneous syndactyly (EDCS), segregating in an autosomal recessive pattern in a Pakistani family was investigated.[ncbi.nlm.nih.gov]
  • Improve your interpretation of presenting symptoms with 39 new topics in the Differential Diagnosis section, and optimize patient care with 12 new tables in the Clinical Practice Guidelines section.[books.google.com]
  • Notes Acknowledgments We sincerely wish to thank the family members for their invaluable cooperation and participation in the present study.[link.springer.com]
  • In the present family, human genome scan mapped the EDSS1 to chromosome 1q23.1-1q23.3.[nature.com]
  • Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation.[contempclindent.org]
Cyanosis
  • الصفحة xvi - The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. Acta Derm Venereol. ‏[books.google.com]
Large Ears
  • Thick, everted lips Large ears. Skin manifestations The skin is smooth, soft, and dry, finely wrinkled (especially around the eyes) and appears prematurely aged.[drmhijazy.com]
Macrotia
  • Curly hair Amniotic constriction ring Hypergranulosis Oral leukoplakia Ankylosis Parakeratosis Neoplasm of the lung Erythema Pain Foot pain Hyperlordosis Triangular face Cleft lip Cleft upper lip Synophrys Toe syndactyly Neurological speech impairment Macrotia[mendelian.co]
Hypoplastic Nails
  • The clinical features of the affected individuals included large prominent ear pinnae, tooth enamel hypoplasia, hypoplastic nails, bilateral partial cutaneous syndactyly, hypotrichosis, palmoplantar keratoderma and hyperhidrosis.[ncbi.nlm.nih.gov]
  • Get Update Overview Ectodermal dysplasia-syndactyly syndrome (EDSS) is characterized by sparse to absent scalp hair, eyebrows, and eyelashes, hypoplastic nails, tooth enamel hypoplasia, conical-shaped teeth, palmoplantar keratoderma, and partial cutaneous[crm.diseaseinfosearch.org]
  • Affiliated tissues include skin , and related phenotypes are widely spaced teeth and coarse hair OMIM : 57 Ectodermal dysplasia-syndactyly syndrome (EDSS) is characterized by sparse to absent scalp hair, eyebrows, and eyelashes, hypoplastic nails, tooth[malacards.org]
Hyperhidrosis
  • The clinical features of the affected individuals included large prominent ear pinnae, tooth enamel hypoplasia, hypoplastic nails, bilateral partial cutaneous syndactyly, hypotrichosis, palmoplantar keratoderma and hyperhidrosis.[ncbi.nlm.nih.gov]
  • الصفحة 151 - Follicular keratosis and verrucous lesions on the extensor surfaces of the arms and legs and on the buttocks (36%) (Figures 11.5 and 11.6) • Palmopiantar hyperhidrosis (20%) Extracutaneous lesions • Cornea! ‏[books.google.com]
  • […] dysplasia Symptoms // Phenotype % cases Intellectual disability Common - Between 50% and 80% cases Seizures Common - Between 50% and 80% cases Sparse hair Common - Between 50% and 80% cases Abnormality of the dentition Common - Between 50% and 80% cases Hyperhidrosis[mendelian.co]
Hyperhidrosis
  • The clinical features of the affected individuals included large prominent ear pinnae, tooth enamel hypoplasia, hypoplastic nails, bilateral partial cutaneous syndactyly, hypotrichosis, palmoplantar keratoderma and hyperhidrosis.[ncbi.nlm.nih.gov]
  • الصفحة 151 - Follicular keratosis and verrucous lesions on the extensor surfaces of the arms and legs and on the buttocks (36%) (Figures 11.5 and 11.6) • Palmopiantar hyperhidrosis (20%) Extracutaneous lesions • Cornea! ‏[books.google.com]
  • […] dysplasia Symptoms // Phenotype % cases Intellectual disability Common - Between 50% and 80% cases Seizures Common - Between 50% and 80% cases Sparse hair Common - Between 50% and 80% cases Abnormality of the dentition Common - Between 50% and 80% cases Hyperhidrosis[mendelian.co]
Keratosis
  • الصفحة 151 - Follicular keratosis and verrucous lesions on the extensor surfaces of the arms and legs and on the buttocks (36%) (Figures 11.5 and 11.6) • Palmopiantar hyperhidrosis (20%) Extracutaneous lesions • Cornea! ‏[books.google.com]
  • Follicularis Spinulosa Decalvans, X-Linked KFSDX 308800 Genetic Test Registry Keratosis Palmoplantaris Striata II Keratoderma, Palmoplantar, Striate Form II Striate Palmoplantar Keratoderma II PPKS2 KPPS2 SPPK2 612908 Genetic Test Registry Keratosis[ukgtn.nhs.uk]
  • […] pilaris (Medical Encyclopedia) Lichen planus (Medical Encyclopedia) Milia (Medical Encyclopedia) Sebaceous cyst (Medical Encyclopedia) Seborrheic keratosis (Medical Encyclopedia) Skin lesion removal (Medical Encyclopedia) Skin lesion removal-aftercare[icdlist.com]
Palmoplantar Keratosis
  • Keratosis Of Greither Keratosis Palmaris Et Plantaris Familiaris Palmoplantar Keratoderma, Epidermolytic, With Knuckle Pads, Included Palmoplantar Keratoderma, Vorner Type Tylosis Unilateral Palmoplantar Verrucous Nevus, Included Unna-Thost Disease,[ukgtn.nhs.uk]
Suggestibility
  • Access full-color images and 65 online-only topics at Expert Consult, as well as online-only contents including EBMs, Suggested Reading, Patient Teaching Guides, and additional algorithms.[books.google.com]
  • .: p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split handfoot malformation suggest a genotype-phenotype correlation. ‏[books.google.com]
  • SELECTED GENES FOR YOUR SLICE SUGGESTED CUSTOM SLICES Customize below OR enter Suggested Slice ID on printed requisition form (e.g. 706 XomeDx Slice - Slice ID: CS-Albinism).[genedx.com]
  • The findings suggest that the high-, medium-, and low- frequency scale instantaneous amplitude and frequency can be used to differentiate between normal tissue and lesions at 0 and 6-12 months.[link.springer.com]
  • The term "incomplete EEC syndrome" was suggested by Pries et al. [18] for cases in which one or more of the cardinal symptoms was missing.[thefreelibrary.com]

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.com]
  • […] photographs of normal and abnormal skin conditions including images of rare conditions, this easily accessible resource is essential for pediatricians, neonatologists, and dermatologists as well as other healthcare professionals involved in the diagnosis and treatment[books.google.com]
  • […] consulted for: Pimples, Pimples Treatment, Acne / Pimples Treatment Book appointment and get 125 LybrateCash (Lybrate Wallet) after your visit Dr.[lybrate.com]
  • Drulovic, Serbia 3:58 Now Playing Impact of the BETAPLUS program on treatment with Betaferon - Interview with Prof. Drulovic 3:08 Now Playing The rationale for injectables in MS treatment today - Interview with Prof.[betaferon.com]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[crm.diseaseinfosearch.org]

Prognosis

  • @inproceedings{Kyriacou2011BrainWM, title {Brain White Matter Lesions Classification in Multiple Sclerosis Subjects for the Prognosis of Future Disability}, author {Efthyvoulos C.[semanticscholar.org]
  • Conclusions: Although a slightly better prognosis is observed in the Turkish MS population, early prognostic factors are similar to most of the previous Western series.[n.neurology.org]
  • It is highly expressed in non-small cell lung cancers (NSCLC), and is associated with poor prognosis. Therefore, it might be involved in tumorigenesis of lung cancer, and has potential as a both marker and a therapeutic target for NSCLC.[sigmaaldrich.com]
  • Prognosis of ACFS is poor.[ojrd.biomedcentral.com]
  • References Prognosis The prognosis for most patients with ectodermal dysplasia is very good. Morbidity and mortality is related to the absence or dysfunction of eccrine and mucous glands.[misc.medscape.com]

Etiology

  • Genet 63:259–266 PubMed CrossRef Google Scholar Pegoraro E, Cepollaro F, Prandini P, Marin A, Fanin M, Trevisan CP, El-Messlemani AH, Tarone G, Engvall E, Hoffman EP, Angelini C (2002) Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology[link.springer.com]
  • […] nild to moderate mental retardation seizures hypotonia hypertonia hydrocephalus cortical atrophy frontal lobe hypoplasia hypoplasia or absence of the corpus callosum brain stem atrophy hyperkeratosis of eccrine duct orifices and follicles ( Image ) Etiology[humpath.com]
  • Whereas the underlying genes/mutations for types II-1, III, IV, V, and VII have been worked out, the etiology and molecular basis of the other syndactyly types remain unknown.[connection.ebscohost.com]
  • Which of the following genetic tests would be most appropriate to order in trying to determine the underlying etiology? A. Cholesterol/7-delhydrocholesterol ratio B. FMR1 analysis C. MECP2 sequence analysis D.[quizlet.com]
  • Etiology The genetic mechanism underlying ACFS is still unknown. Isolated or syndromic SHFM has been linked to different loci or genes.[ojrd.biomedcentral.com]

Epidemiology

  • Epidemiology The incidence of ACFS has not been determined, due to the paucity of the reported cases, but it is likely a very rare disease ( 1 in 100,000 newborns). A similar occurrence among genders is expected for an autosomal disorder.[ojrd.biomedcentral.com]
  • […] calcium release-activate calcium modulator 1. [41] Odonto-onycho-dermal dysplasia (OODD), Schopf-Schultz-Passarge syndrome, selective tooth agenesis, and related forms of ectodermal dysplasia are caused by mutations in WNT10A. [42, 43, 44, 45] References Epidemiology[misc.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Greig cephalopolysyndactyly syndrome has an autosomal dominant pattern of inheritance. The foot of the patient with Greig cephalopolysyndactyly shows a partially duplicated hallux with cutaneous syndactyly of several digits.[ipfs.io]
  • References Pathophysiology Ectodermal dysplasia results from the abnormal morphogenesis of cutaneous and/or oral embryonal ectoderm (ie, hair, nails, teeth, eccrine glands). In some forms, mesodermal abnormalities are also present.[misc.medscape.com]

Prevention

  • Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets[books.google.com]
  • Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein.[ipfs.io]
  • Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates[icdlist.com]
  • This condition prevents horizontal eye movement, with absence of ...[kegg.jp]
  • General dentists or periodontal dentists can provide regular preventative dental care and restorative service as indicated.[misc.medscape.com]

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