AEC syndrome manifested in one male and the EEC equally presented with three males and three females. [amsjournal.com]

There are a few cases of EEC syndrome reported in the literature, with variable presentation. Here, we offer an insight into the diagnosis and management of EEC syndrome through the presentation of a case. [parjournal.net]

Case Presentation The patient, a 2-year old boy, was the product of the second pregnancy of a young couple. [bioline.org.br]

Here we present a family with Rapp-Hodgkin syndrome (RHS) that manifests MCT, and use this rare finding to suggest that RHS may be related not only to phenotypically similar syndromes, but seemingly dissimilar ones as well. [ncbi.nlm.nih.gov]

In conclusion we presented two families with overlapping forms of ectodermal dysplasia, VDS and RHS, with mutations in IRF-6 and P63 respectively. [sciencerepository.org]

• Short Stature

  The father and two other sisters of the patient had normal facial features, but had short stature and had dental anomalies, the latter suggestive of ectodermal dysplasia. [insights.ovid.com]

  Renal hypoplasia/aplasia Short long bone Abnormality of the fingernails Short ribs Situs inversus totalis Heterotopia Abnormality of the nail Dandy-Walker malformation Proportionate short stature Mild short stature Limb undergrowth Abnormality of bone [mendelian.co]

  stature Hearing Deafness Ocular Absent lacrimal puncta Ptosis Show images https://www.datagenno.com/utils/files/images/1238/normal Oral Cleft lip with or without cleft palate Cleft palate Show images https://www.datagenno.com/utils/files/images/1018/ [datagenno.com]

  Other signs and symptoms include hypoplasia of the maxilla (decreased size of upper jaw bone), ptosis (drooping of upper eyelid), short stature (decreased body height), syndactyly (webbed fingers or toes), thick or thin nails, underdeveloped nasal alae [xpertdox.com]

• Feeding Difficulties

  This is associated with facial dysmorphology, dental anomolies, hearing loss, speech delay, feeding difficulties and failure to thrive. [dermatologyadvisor.com]

  Management is usually difficult, often requiring aggressive wound care, including surgical débridement and early topical and systemic administration of antibiotics. 2 Feeding difficulty can be seen during infancy owing to poor oral–motor functions, and [cmaj.ca]

  Shortly after birth, he had feeding difficulty with nasal regurgitation and was found to have a bifid uvula, a submucosal cleft palate, facial dysmorphism, coarse hair, and brittle nails. [escholarship.org]

• Surgical Procedure

  Materials and Methods: Extensive demographic information, in particular of the clinical appearances, associated malformations, and the types and complications of the reconstructive surgical procedures, were recorded of these syndromic cases occurring [amsjournal.com]

  Surgical procedures such as repairing a cleft palate may lessen facial deformities and improve speech. Wigs may be worn to improve the appearance of patients with little or no hair. [dermnetnz.org]

• Sepsis

  AEC is associated with skin erosions that can lead to fluid and electolyte imbalance, percutaneous toxicity, secondary infection, sepsis and death in the neonatal period. [dermatologyadvisor.com]

  Over the next 4 weeks, the infant experienced multiple episodes of secondary bacterial sepsis, which required intravenous antibiotic therapy and oral analgesic therapy. [cmaj.ca]

  On the scalp, erosive dermatitis is present, and is a common source of secondary infection that puts these patients at a greater risk of bacterial superinfection and sepsis, thereby leading to a considerable increase in the morbidity and mortality of [scielo.br]

  In severe cases, these persistent skin erosions can lead to frequent infection and potentially life-threatening complications such as sepsis. Additional skin abnormalities may also be present. [rarediseases.org]

  Prevention of secondary complications: Infants with severe skin erosions need aggressive monitoring/treatment of dehydration, electrolyte imbalances, malnutrition, and secondary infection and sepsis. [ncbi.nlm.nih.gov]

• Microstomia

  Clinical features include a characteristic facies, i.e. midfacial hypoplasia, narrow nose and microstomia, variable ectodermal defects and cleft lip or palate. [geneskin.org]

  Topics Zlotogora-Ogur syndrome Ectodermal Dysplasia Pili torti-deafness syndrome Hypohidrosis Hypoplasia of the maxilla Hypodontia Alopecia Entity Handling - dry Hypoplasia Hair Scalp structure Maxilla Autosomal dominant inheritance Microstomia Cleft [q9.placate.us]

  The girl had facial deformity, including midfacial hypoplasia, bilateral ectropion, small nasal bridge, long philtrum, microstomia and nail hypoplasia. Fig. 1. (a) Generalized erythema of the skin and multiple erosions on the lumbosacral region. [medicaljournals.se]

  Additional findings that have been reported in individuals with AEC syndrome include abnormally small ears, a broad bridge of the nose, an abnormally short groove that runs from the top of the upper lip to the nose (philtrum), an abnormally small mouth (microstomia [rarediseases.org]

  Craniofacial findings include the following: o Maxillary hypoplasia (reported in 94%) o Small mandible (reported in 65%) o Broad nasal bridge (76%) o Hypoplastic alae nasi (94%) o Thin vermilion border of the upper lip (82%) o Microstomia (94%) o Trismus [ncbi.nlm.nih.gov]

• Widely Spaced Teeth

  We report 2 Yemeni siblings with typical EDSS manifestations, including bilateral, partial cutaneous syndactyly of the fingers and toes; sparse, coarse, brittle scalp hair, eyebrows, and eyelashes; and conical, widely spaced teeth with enamel notches. [developers.lokasi.live]

  spaced teeth and inadequate perspiration (partial anhidrosis). [cmaj.ca]

  The ectodermal defects were partial or complete hair loss, absent or dystrophic nails, pointed widely spaced teeth and partial anhidrosis. [typeset.io]

  spaced teeth Bifid uvula Supernumerary nipple Hypogonadism Abnormality of the ureter Renal agenesis Depressed nasal bridge Abnormality of the kidney Toe syndactyly Sparse scalp hair Alopecia High forehead Hypoplastic-absent sebaceous glands Microcephaly [mendelian.co]

  Dental abnormalities are also common and can include one or more missing teeth (hypodontia), widely spaced teeth, and malformed or underdeveloped (hypoplastic) teeth. The lower jaw may also be small and underdeveloped (maxillary hypoplasia). [rarediseases.org]

• Selective Tooth Agenesis

  tooth agenesis Dysphonia Intellectual disability, mild Non-midline cleft lip Microphthalmia Abnormality of the voice Thick vermilion border Skin erosion Chronic sinusitis Trismus Short philtrum Hypotrichosis Pustule Absent eyelashes Iris coloboma Coloboma [mendelian.co]

  The WNT10A gene in ectodermal dysplasias and selective tooth agenesis. Am J Med Genet A. 2014 Oct. 164A (10):2455-60. [Medline]. Tziotzios C, Petrof G, Liu L, Verma A, Wedgeworth EK, Mellerio JE, et al. [emedicine.medscape.com]

• Hearing Impairment

  impairment Hearing impairment Microdontia Short stature Wide nasal bridge Hypospadias Sparse hair Ankyloblepharon Nail dystrophy Abnormality of dental enamel Sparse eyelashes Underdeveloped nasal alae Tics Pili torti Anal atresia Finger syndactyly Oral [mendelian.co]

  Affiliated tissues include skin and tongue, and related phenotypes are ptosis and hearing impairment Disease Ontology : 12 An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth [malacards.org]

  Signs and symptoms : Common features of this syndrome include brittle, sparse and dry hair with alopecia in adulthood, hypohidrosis (a reduced ability to sweat due to decrease in the number of sweat glands), heat intolerance, dental anomalies, hearing [xpertdox.com]

  Some individuals with ectodermal dysplasia, particularly those with EEC syndrome, may have hearing impairment. Structural birth defects may occur in some ectodermal dysplasias. [encyclopedia.com]

• Alopecia

  Keywords: Alopecia, Ectodermal dysplasia, Hyperkeratosis, Onychodysplasia, Sensorineural deafness How to cite this article: Akhyani M, Kiavash K. [ijdvl.com]

  Bowen Armstrong syndrome is characterized by dystrophic hair with recurrent scalp erosions and scarring alopecia, nail and teeth dystrophy and mild to severe mental retardation. [bioline.org.br]

  Pili Torti in Non-Cicatricial Alopecias Pili Torti in Alopecia Areata Alopecia areata is an autoimmune form of non-scarring hair loss that may affect any hair-bearing area. [mdpi.com]

  Other common features include sparse, brittle, and dry hair with alopecia in adulthood together with hypohidrosis (a reduced ability to sweat) and heat intolerance, dental anomalies (hypodontia (absent teeth), cone-shaped incisors and enamel hypoplasia [diseaseinfosearch.org]

  The main features include dry, brittle hair with alopecia in adulthood, dental anomalies (hypodontia, microdontia with delayed eruption, fissured tongue, and retruded maxilla), hypohidrosis, dysplastic nails, and clefting. [hypodontia.com]

• Dermatitis

  Notably, our patient did not have a history of erosive scalp dermatitis, a characteristic feature of the Hay Wells syndrome, but his mother had an erosive dermatitis with a marked alopecia[13]. [bioline.org.br]

  AEC syndrome manifests the same defects plus ankyloblepharon and a higher frequency of scalp dermatitis. [ncbi.nlm.nih.gov]

  Photographs demonstrate ankyloblepharon (A), nail hypoplasia (B), erosive scalp dermatitis (C), and truncal skin fragility (D). Skin biopsies were performed. [jamanetwork.com]

  […] dysplasia-cleft palate pic 2 mid facial hypoplasia, cleft lip/palate, scalp dermatitis, decreased sweating, hypodontia ectrodactyly, hearing loss, 70% cleft lip, sparse hair extodermal dysplasia extrodactyly clefting syndrome splite hand split foot extrodermal [quizlet.com]

  Scalp dermatitis, ectodermal dysplasia and cleft lip and palate: Rapp–Hodgkin or AEC syndrome. Australas J Dermatol 1996 ; 37 : 102 -3. 5. ↵ Cambiaghi S, Tadini G, Barbaresehi M, Menni S, Caputo R. [cmaj.ca]

• Decreased Sweating

  CONICAL teeth, normal nails Decreased sweating with heat intolerance hypohidrotic ectodermal dysplasia EDA ectodysplasin A XLR*** Hypohidrotic ectodermal dysplasia pic early clue to the diagnosis of hypohidrotic ectodermal dysplasia males may have collodiom [quizlet.com]

  photophobia and recurrent infections Hearing loss Urogenital problems Mammary gland/nipple changes (hypoplasia or supernummerary Subjective decreased sweating Characteristic findings on physical examination AEC syndrome Facial features with maxillary [dermatologyadvisor.com]

  Individuals with Rapp-Hodgkin Syndrome may have decreased sweat gland density (than normal) Hypotrichosis: Sparse scalp and body hair that is brittle and slow-growing; loss of hair Hypodontia (absent teeth) or malformed teeth; teeth that are present tend [dovemed.com]

  Children with decreased sweating may suffer up to 30% mortality in infancy or early childhood due to intermittent hyperpyrexia. [doctors.co.il]

• Anhidrosis

  […] excessively brittle abnormal peg-shaped or pointed teeth, particularly the upper incisors and cuspids which are typically conical missing teeth (anodontia or hypodontia) and taurodontism of deciduous molars inability to sweat due to lack of sweat glands (anhidrosis [radiopaedia.org]

  […] by ankyloblepharon filiforme adnatum, ectodermal dysplasia and cleft palate with or without associated cleft lip. 1 Ectodermal defects include hair loss, absent or dystrophic nails, pointed and widely spaced teeth and inadequate perspiration (partial anhidrosis [cmaj.ca]

  The ectodermal defects were partial or complete hair loss, absent or dystrophic nails, pointed widely spaced teeth and partial anhidrosis. [typeset.io]

  There was no history of hypohidrosis or anhidrosis, heat intolerance, cleft lip or cleft palate. Microscopy of the hair shaft found “bubbly hair” morphology. [ijtrichology.com]

  […] glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis [mendelian.co]

• Erythema

  At birth, she presented with generalized erythema and widespread superficial skin erosions on the lumbosacral region (Fig. 1a). [medicaljournals.se]

  Examination of her scalp revealed alopecia with crusting, erythema and scaling ( Fig. 1 ). Her fingernails and toenails were abnormally formed ( Fig. 2 ). [cmaj.ca]

  ♦Erythromelagia ERYTHEMA MULTIFORME, STEVENS JOHNSON SYNDROME, TOXIC EPIDERMAL NECROLYSIS Must know Should know Good to know ♦ Erythema multiforme, Stevens-Johnson syndrome, and toxic epidermal necrolysis: - Etiology - Predisposition in HIV - Pathology [medicaldialogues.in]

  erythema, perifollicular scaling, hair casts, white areas, loss of follicular openings Discoid Lupus Erythematosus women 20–40 years of age well-demarcated annular or oval plaques with follicular plugging, erythema, telangiectasia, scaling, dyspigmentation [mdpi.com]

• Suggestibility

  Here we present a family with Rapp-Hodgkin syndrome (RHS) that manifests MCT, and use this rare finding to suggest that RHS may be related not only to phenotypically similar syndromes, but seemingly dissimilar ones as well. [ncbi.nlm.nih.gov]

  Therefore, our data suggest that the transdominant negative effect of ΔNp63 toward TP53 does not result from a competition in the DNA binding. [nature.com]

  Conclusion: Due to the clinical similarities, we suggest that Hay Wells syndrome and Bowen Armstrong syndrome may be the same clinical entity with variable manifestations. [bioline.org.br]

• Narrow Nose

  nose from the nasal bridge to the tip, narrow dysplastic nails, and conical teeth and hypodontia, and hypospadias and hypoplastic uvula in the boy. [hero.epa.gov]

  Clinical features include a characteristic facies, i.e. midfacial hypoplasia, narrow nose and microstomia, variable ectodermal defects and cleft lip or palate. [geneskin.org]

  Università degli Studi - Torino, Dipartimento di Discipline Medico-Chirurgiche, Sezione Dermatologia PDF A 23-year old woman with narrow nose, maxillary hypoplasia, cleft lip and palate, hypodontia, dystrophic nails and hypohidrosis is described. [minervamedica.it]

  Rapp-Hodgkin syndrome An autosomal dominant condition (OMIM:129400) characterised by anhidrotic ectodermal dysplasia, cleft lip and palate, and accompanied by a characteristic facies (narrow nose and small mouth); wiry, slow-growing, uncombable hair; [medical-dictionary.thefreedictionary.com]

• Burning Sensation

  Affected patients may complain of a burning sensation or tenderness at the corners of the mouth. The discomfort associated… Next post in Dermatology [oncologynurseadvisor.com]

CLINICAL Section 3 of 11 Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography History: Individuals affected by EDS have abnormalities in different structures. [doctors.co.il]

[…] materials: o Classification, o Suture size, o Type and size of needle ♦ Types of suturing: o simple interrupted, o mattress, vertical & horizontal o Intradermal buried, o S.C. buried, o Running subcuticular, o Figure of 8 ♦ Suture removal ♦ Preoperative workup [medicaldialogues.in]

The dental treatment included root canal treatment, composite restorations, extractions and removable prostheses. This paper highlights features of Rapp-Hodgkin Syndrome and its dental rehabilitation. [ncbi.nlm.nih.gov]

Treatment of the foot malformation brings the size of the foot into the normal range, fills the cleft, corrects the secondary deformities and maintains good function. [ 1 ] In conclusion, the ideal treatment plan includes early diagnosis and a multidisciplinary [parjournal.net]

Treatment Options Treatment of the erosions in AEC is very challenging and can be frustrating since wound healing is poor. Aggressive wound care managment should be avoided and gentle wound care is advised. [dermatologyadvisor.com]

The focus of our treatment was to restore the function and esthetics. However, this should not underestimate the importance of prevention. Age and psychological aspect governed our treatment. [jisppd.com]

[…] rarely be fatal fingernails and toenails may be absent, thick, abnormally shaped, discoloured, ridged, slow growing, or brittle lack of breast development absent fingers or toes recurrent infections missing ears and hearing difficulties Treatment and prognosis [radiopaedia.org]

Prognosis - Rapp-Hodgkin syndrome Not supplied. [checkorphan.org]

Prognosis This syndrome is rare and has only recently been delineated, so it is difficult to find any reliable information on long-term outlook. Patients who are adequately managed seem to do well in the medium term. [patient.info]

The etiology is unknown, but consanguinity of parents points to an autosomal recessive inheritance. Keywords: Alopecia, Ectodermal dysplasia, Hyperkeratosis, Onychodysplasia, Sensorineural deafness How to cite this article: Akhyani M, Kiavash K. [ijdvl.com]

[…] syndrome ♦ Sex chromosomal defects – turner's, klinefelter's, noonan syndrome o Familial multiple tumour syndromes – neurofibromatosis syndrome 1,2 – (definition, etiology, clinical features, treatment) o Tuberous sclerosis complex ♦ Nosology of genetics [medicaldialogues.in]

(Etiology) Rapp-Hodgkin Syndrome is a genetic disorder that is caused by mutations in the TP63 gene The condition is inherited in an autosomal dominant manner Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when [dovemed.com]

Etiology Mutations in the p63 gene on chromosome 3q27 leading to defective p63 protein are responsible for both AEC and EEC syndrome. [dermatologyadvisor.com]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

♦ Skin testing ♦ Radiological and imaging ♦ Commonly used laboratory tests examination ♦ Oral provocation test EPIDEMIOLOGY OF SKIN DISEASE Must know Should know Good to know ♦ What is epidemiology and why is it relevant to dermatology ♦ Describing [medicaldialogues.in]

EEC syndrome is caused by point mutations in the DNA binding domain of p63 in 95% of cases Pathophysiology p63 is a transcription factor expressed as six isoforms. [dermatologyadvisor.com]

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. [emedicine.medscape.com]

The following are the 3 most commonly recognized entities: EEC (ectodermal dysplasia, ectrodactyly, cleft lip/palate) syndrome Rapp-Hodgkin syndrome Hay-Wells or AEC (ankyloblepharon, ectodermal dysplasia, cleft lip/palate) syndrome Pathophysiology: ED [doctors.co.il]

[…] analysis using the same p63 antibody (which recognizes all isoforms of p63) demonstrated similar patterns of nuclear localization of p63 in both control and patient tissue samples, indicating that aberrant p63 expression likely does not contribute to the pathophysiologic [jamanetwork.com]

[…] maternal exposure to corticosteroids, phenytoin, valproic acid, thalidomide, alcohol, cigarettes, dioxin, or retinoic acid; and maternal diabetes mellitus, hormone imbalance, and vitamin deficiency * Fetal alcohol syndrome * Treacher Collins syndrome Prevention [checkorphan.org]

Wound care seems paradoxical as an overly moist, occluded wound bed seems to prevent healing and increases the risk of infection in AEC. Do NOT attempt skin grafting as it will fail! [dermatologyadvisor.com]

Topical management of the recurring external otitis slows the process but has been unsuccessful in preventing restenosis of both external auditory canals. [ncbi.nlm.nih.gov]