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Euhidrotic Ectodermal Dysplasia


Presentation

  • Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation. Int J Dermatol 2007; 46: 631- 633. 2010 Egyptian Dermatology Online Journal[edoj.org.eg]
  • However, congenital absence of primary teeth is relatively rare. [10] But in the present case, both the patients presented with history of non-existence of primary teeth. Teeth that were present had abnormal crown form.[jiaomr.in]
  • This article presents with prosthetic rehabilitation including removable partial and complete denture and implant supported overdenture of two male children of a family presenting with HED.[contempclindent.org]
  • .- ) Sturge-Weber (-Dimitri) syndrome ( Q85.8 ) Other congenital malformations of skin Approximate Synonyms Ectodermal dysplasia Hay wells syndrome of ectodermal dysplasia Present On Admission POA Help "Present On Admission" is defined as present at the[icd10data.com]
  • In the present report, anhidrotic ectodermal dysplasia was suspected due to history of frequent episodes of high fever and senile appearance of the child.[ijdr.in]
Physician
  • There are many physicians who do not have a desk computer or do not History feel at ease in using one.[books.google.de]
  • This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.[books.google.de]
  • Often, a physician can diagnose HED after infancy on the basis of physical features. Symptoms to look for in newborns: Dark circles around their eyes because that skin is thin and the underlying blood vessels create a bluish shadow.[nfed.org]
  • So, the role of an oral physician is challenging and plays a pivotal role in arriving at an early and prompt diagnosis of such congenital disturbances.[pubs.sciepub.com]
Nail Abnormality
  • Depending on which genes are affected, other symptoms may include: Abnormal nails Abnormal or missing teeth, or fewer than normal number of teeth Cleft lip Decreased skin color (pigment) Large forehead Low nasal bridge Thin, sparse hair Learning disabilities[medlineplus.gov]
  • Nails Abnormalities in the shape of the nails and it affects both the fingernails and toenails. Different color of the nail, slow growing and brittleness are also present.[healthfoxx.com]
Asymptomatic
  • These carrier females are usually asymptomatic or may express a variable phenotype of this condition in view of random inactivation of one of the X-chromosome during early embryogenesis [ 4 ].[edoj.org.eg]
Pharyngitis
  • Frequent pharyngitis, otitis, and rhinitis; nasal obstruction; hearing loss; and hoarseness has also been reported.[ijcasereportsandimages.com]
Abnormal Teeth
  • Ectodermal dysplasia with alopecia, onychodysplasia, hypohidrosis, keratoderma, abnormal teeth and deafness. Indian J Dermatol Venereol Leprol 2007 Nov-Dec;73(6):409–11. [ CrossRef ] [ Pubmed ] Vieira KA, Teixeira MS, Guirado CG, Gavião MB.[ijcasereportsandimages.com]
  • The lack of teeth or abnormal teeth and the special appearance were reported to be of major concerns. Oral traits of ectodermal dysplasia may be expressed as anodontia or hypodontia, with or without a cleft lip and palate.[pubs.sciepub.com]
Alopecia
  • Assigned diseases: Back to detailed view In the following you will find the diseases that this support group organisation focuses on: ADULT syndrome AREDYLD syndrome Acrofacial dysostosis, Weyers type Alopecia-contractures-dwarfism-intellectual disability[se-atlas.de]
  • Fig 1: Diffuse alopecia on the vertex with dry lusterless hair at the margins of the scalp. Fig 2: Sparse eyebrows and eyelashes with ectropion of both eyes. Fig 3: Hypodontia with conical lower incisors.[edoj.org.eg]
  • Ectodermal dysplasia alopecia preaxial polydactyly 0 *Alopecia *Ectodermal Dysplasia *Polydactyly *Facies. Ectodermal dysplasia adrenal cyst 0 *Adrenal Gland Diseases *Cysts *Ectodermal Dysplasia.[reference.md]
  • The main findings include: alopecia, onychodysplasia, hypohidrosis, sensorineural deafness, skin with a tan color and hyperkeratosis (involving also plams and soles), unusual facies (with slight auricle and nose abnormalities), pectus excavatum, severe[karger.com]
  • Clinical differential considerations include: alopecia areata aplasia cutis congenita focal dermal hypoplasia syndrome incontinentia pigmenti Naegeli-Franceschetti-Jadassohn syndrome pachyonychia congenita Promoted articles (advertising)[radiopaedia.org]
Hyperkeratosis
  • The main findings in both children are: hypodontia, abnormally shaped teeth, scalp hypotrichosis, pili annulati, follicular hyperkeratosis on the trunk and limbs, intensified delineation and reticular hyperpigmentation of the nape, and hyperopia; one[ncbi.nlm.nih.gov]
  • […] definitionPilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis[malacards.org]
  • Clinical: Hypodontia; abnormally shaped teeth; scalp hypotrichosis; disorders of pigmentation of the hair; follicular hyperkeratosis on the trunk and limbs; intensified delineation and reticular hyperpigmentation of the skin of the nape; broadening of[esanatos.com]
  • The main findings include: alopecia, onychodysplasia, hypohidrosis, sensorineural deafness, skin with a tan color and hyperkeratosis (involving also plams and soles), unusual facies (with slight auricle and nose abnormalities), pectus excavatum, severe[karger.com]
  • The palmer skin biopsy confirmed the absence of sweat and sebaceous glands and revealed orthokeratotic hyperkeratosis and acanthosis of the epidermis. The Starch Iodine test on the back demonstrated lack of sweating.[edoj.org.eg]
Hyperpigmentation
  • The main findings in both children are: hypodontia, abnormally shaped teeth, scalp hypotrichosis, pili annulati, follicular hyperkeratosis on the trunk and limbs, intensified delineation and reticular hyperpigmentation of the nape, and hyperopia; one[ncbi.nlm.nih.gov]
  • Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.Visit the Orphanet disease page for more resources.[malacards.org]
  • Clinical: Hypodontia; abnormally shaped teeth; scalp hypotrichosis; disorders of pigmentation of the hair; follicular hyperkeratosis on the trunk and limbs; intensified delineation and reticular hyperpigmentation of the skin of the nape; broadening of[esanatos.com]
  • In the other case described, 5 facial dysmorphy was absent, but skin manifestations were more severe with hemangiomata at birth, hyperpigmentation of the skin, and eczema.[pediatrics.aappublications.org]
  • The patient had a distinct facies with a prominent forehead, periorbital wrinkling and hyperpigmentation, depressed mid-face, and full everted lips. Only five peg-shaped upper teeth were present. Body hair were sparse.[ijdvl.com]
Follicular Hyperkeratosis
  • The main findings in both children are: hypodontia, abnormally shaped teeth, scalp hypotrichosis, pili annulati, follicular hyperkeratosis on the trunk and limbs, intensified delineation and reticular hyperpigmentation of the nape, and hyperopia; one[ncbi.nlm.nih.gov]
  • hyperkeratosis on the trunk and limbs, and hyperopia.[malacards.org]
  • Clinical: Hypodontia; abnormally shaped teeth; scalp hypotrichosis; disorders of pigmentation of the hair; follicular hyperkeratosis on the trunk and limbs; intensified delineation and reticular hyperpigmentation of the skin of the nape; broadening of[esanatos.com]
Seizure
  • Health problems from this condition may include: Brain damage caused by increased body temperature Seizures caused by high fever ( febrile seizures ) Call for an appointment with your health care provider if your child shows symptoms of this disorder.[medlineplus.gov]
  • Complications Possible complications include: Febrile seizure due to high fever. Recurrent infections in the upper respiratory tract are common. Inflammation of the scalp that will result to erosion because of Alopecia. Failure in growth development.[healthfoxx.com]
  • Clinical diagnosis is usually made in infancy or childhood when they present with skin, dental, hair, and nail changes, if undiagnosed early, the child may present with complications like seizures (due to hyperthermia), xerophthalmia, conjunctivitis or[ijcasereportsandimages.com]
  • The first injection of Thymoglobulin resulted in massive cardiovascular toxicity with collapsus, generalized seizures, and necrosis of the skin of the extremities (feet and hands).[pediatrics.aappublications.org]

Workup

  • The “normal” immunologic workup in these patients is indeed potentially misleading, particularly in children with EDA-ID before infections occur and before antibody response to polysaccharides can be tested (18–24 months of age).[pediatrics.aappublications.org]
  • Immunologic screening should be considered for all children with HED, and a thorough workup is essential if there is any abnormal pattern of infections.[frontiersin.org]

Treatment

  • Treatment - Euhidrotic ectodermal dysplasia Not supplied. Resources - Euhidrotic ectodermal dysplasia Not supplied.[checkorphan.org]
  • In the meantime, this is what Miss D has said about her treatment: “I have been having treatment with David Satchell for four years for the treatment of anhidrotic ectodermal dysplasia. This condition I have had since birth.[davidsatchell-trichologist.com]
  • “This is a great success story of a disease gene discovery leading to diagnosis and treatment,” said GGC director Dr.[globalgenes.org]
  • These treatment approaches can be used individually or in combination to provide an optimal result. The proper sequencing of treatment is important to achieve the desired function and esthetic results.[ijdr.in]
  • Clinical Relevance to Interdisciplinary Dentistry A multidisciplinary approach comprising restorative, prosthetic, and periodontal treatment was done to achieve a satisfactory result.[jidonline.com]

Prognosis

  • Prognosis - Euhidrotic ectodermal dysplasia Not supplied. Treatment - Euhidrotic ectodermal dysplasia Not supplied. Resources - Euhidrotic ectodermal dysplasia Not supplied.[checkorphan.org]

Etiology

  • Genetic studies regarding the etiology of EDA revealed that mutations in the ectodysplasin-A and ectodysplasin-A receptor genes are responsible for X-linked and autosomal hypohidrotic ectodermal dysplasia [5].[ijcasereportsandimages.com]
  • The etiology is unknown but presumed to be genetic, possibly due to the homozygous state of an autosomal recessive mutation. 1977 S. Karger AG, Basel Article / Publication Details First-Page Preview[karger.com]
  • We also consider the various etiological factors and their clinical diagnostic aids. Keywords: Blaschko lines, hypohydrotic ectodermal dysplasia, sweat pore counts How to cite this article: Ramesh K, Vinola D, John JB.[jisppd.com]
  • Genetic studies regarding the etiology of Ectodermal Dysplasia reveal that mutations in these genes are responsible for X-linked and autosomal hypohidrotic Ectodermal dysplasia.[pubs.sciepub.com]
  • The etiology of keratoconus remains unknown, although many diseases have been described in association with it.[healio.com]

Pathophysiology

  • Various classifications have been proposed based on clinical features, mode of inheritance, gene mutations and pathophysiology, but pure EDA manifests with defects in ectodermal structures alone.[ijcasereportsandimages.com]

Prevention

  • Prevention - Euhidrotic ectodermal dysplasia Not supplied. Diagnosis - Euhidrotic ectodermal dysplasia Not supplied. Prognosis - Euhidrotic ectodermal dysplasia Not supplied. Treatment - Euhidrotic ectodermal dysplasia Not supplied.[checkorphan.org]
  • […] of Pedodontics and Preventive Dentistry, VMSDC, Salem, Tamilnadu, India 3 Former Professor and HOD, Department of Pedodontics and Preventive Dentistry, VMSDC, Salem, Tamilnadu, India Date of Web Publication 8-Mar-2010 Correspondence Address : K Ramesh[jisppd.com]
  • For the eyes, artificial tears through eye drops can be used to prevent corneal damage. For nasal congestion, you can remove secretions with the use of suctions and humidification of air.[healthfoxx.com]
  • CASE REPORT Year : 2016 Volume : 6 Issue : 1 Page : 25-28 Prosthodontic rehabilitation of a pediatric patient affected with anhidrotic ectodermal dysplasia: A rare case report 1 Department of Pedodontics and Preventive Dentistry, Genesis Institute of[jidonline.com]
  • Use artificial tears to replace normal tearing and prevent drying of the eyes. Spray the nostrils with saline nose spray often to remove debris and prevent infection.[medlineplus.gov]

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