Perelman Department of Dermatology, New York University Abstract A 5-year-old boy with a history of a bifid uvula and a submucosal cleft palate presented for evaluation of brittle nails. [escholarship.org]

A 5-year-old boy with a history of a bifid uvula and a submucosal cleft palate presented for evaluation of brittle nails. [ncbi.nlm.nih.gov]

The current one divides ED into pure ED and ED syndromes - the former presents only ectodermal defects and the later presents ectodermal defects with other anomalies. [jisppd.com]

The association between AEC syndrome and choanal atresia, as presented in our patient, was reported to our knowledge only in two cases (7, 8). The pattern of erosions presented in our patient is pathognomonic for AEC syndrome. [medicaljournals.se]

Her mother presented only dystrophic nails and hypohidrosis. Rapp-Hodgkin syndrome is an uncommon, autosomal dominant condition characterized by distinctive craniofacial anomalies and cleft lip and palate. [minervamedica.it]

• 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]

• Regurgitation

  Breastfeeding may or may not be possible depending on the location and size of the defect –Specialized bottles and nipples may be required to accomplish adequate feeding * Surgical correction (usually in 2–4 stages) with surgical priorities being prevention of regurgitation [checkorphan.org]

  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]

• Eye Irritation

  […] with symptoms of overheating Feeding difficulties and poor weight gain Need for a gastrostomy tube EEC syndrome Congenital hand and foot malformations Cleft lip and/or palate Eye problems with dry eyes, irritation, photophobia and recurrent infections [dermatologyadvisor.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

  The ectodermal dysplasia manifests through uncombable, sparse, wiry hair; alopecia in adulthood; hypodontia; hypohidrosis; and dysplastic nails. [ncbi.nlm.nih.gov]

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

  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]

  We report on a 16-year-old patient with ectrodactyly-ED-clefting (EEC) syndrome, who exhibited a scarring alopecia due to deep folliculitis. [karger.com]

• Sparse Fine Hair

  fine hair Thin with decreased number of sweat pores [datagenno.com]

  The congenital erythroderma in AEC may mimic epidermolysis bullosa (EB) or a collodian baby (skin that resembles a yellow, tight and shiny film) or dried collodion (sausage skin) Hair Sparse, fine hair (hypotrichosis) Can be brittle, coarse or wiry with [nfed.org]

  Hair changes are more obvious with age. Hair is typically light-colored and fine. Eyebrows and eyelashes are sparse. Nail dysplasia is commonly reported. Dental anomalies. [ncbi.nlm.nih.gov]

• Thin Skin

  Symptoms - Rapp-Hodgkin syndrome * Thin skin * Reduced number of sweat pores * Sparse hair * Fine hair * Pili canaliculi * Small nails * Missing teeth * Small teeth * Conical teeth * Low nasal bridge * Narrow nose * Hypoplastic nostrils * Maxillary hypoplasia [checkorphan.org]

  Abnormal oral mucosa morphology Agenesis of corpus callosum Agenesis of permanent teeth Hypothyroidism Depressed nasal ridge Intrauterine growth retardation Taurodontia Abnormal hair quantity Aplasia/Hypoplasia of the eyebrow Hydroureter Thin skin Ptosis [mendelian.co]

• Freckled Skin

  /scalp erosions are unusual and not a prominent feature of EEC syndrome ADULT (Acro-Dermato-Ungual-Lacrimal-Tooth) syndrome Autosomal dominant Manifested by ectrodactyly or syndactyly; dry, freckled skin, dystrophic nails, lacrimal duct atresia, primary [dermatologyadvisor.com]

• Narrow Nose

  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]

  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]

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

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

• Mid-Face Hypoplasia

  Cases of RHS and AEC show considerable clinical overlap, particularly with regard to hypotrichosis and mid-face hypoplasia, and the clinical feature of ankyloblepharon in AEC is often subtle, transient and a poor distinguishing clinical sign. [ncbi.nlm.nih.gov]

  Results Cases of RHS and AEC show considerable clinical overlap, particularly with regard to hypotrichosis and mid‐face hypoplasia, and the clinical feature of ankyloblepharon in AEC is often subtle, transient and a poor distinguishing clinical sign. [doi.org]

• Trichotillomania

  Psychological importance of skin ♦ Disability and quality of life ♦ Classification ♦ Delusions of parasitosis ♦ Cutaneous phobias ♦ Anorexia nervosa and bulimia ♦ Self inflicted and simulated skin disease o Lichen simplex and neurodermatitis o Acne excoriee o Trichotillomania [medicaldialogues.in]

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 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]

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 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]

Treatment Doctors can treat many of the symptoms of AEC. You’ll work with a team that may include surgeons, skin doctors, dentists, eye doctors, and others. [webmd.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]

& LICHENOID DISORDERS Must know Should know Good to know ♦ Lichen Planus & Lichenoid Disorders: o etiopathogenesis, o clinical Definition, o features, o variants, o Differential diagnosis, o histology, o complications, o associations, o Treatment, o prognosis [medicaldialogues.in]

[…] 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]

Rapp-Hodgkin syndrome: clinical and dental findings. 61 Tosun G...Elbay U 19953814 2009 45 Hay-Wells syndrome in a child with mutation in the TP73L gene. 61 Garcia Bartels N...Blume-Peytavi U 17910675 2007 46 AEC syndrome: further evidence of a common genetic etiology [malacards.org]

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]

SNPs for DLX6 No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLX6 Gene - elite association - COSMIC cancer census association via MalaCards Relevant External Links for DLX6 Genetic Association Database (GAD) DLX6 Human Genome Epidemiology [genecards.org]

The gene locus for AEC syndrome and Hay-Wells syndrome is on the long arm of chromosome 3. [ 5 ] Epidemiology These are exceedingly rare conditions with only a handful of reported cases. [patient.info]

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]

 In 2003, Lamartine reclassified ED into the following 4 functional groups based on the underlying pathophysiologic defect:  (1) cell-to-cell communication and signaling  (2) adhesion  (3) development  (4) other 27.  The most common ectodermal [de.slideshare.net]

[…] 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]