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Hay-Wells Syndrome

AEC Syndrome


Presentation

  • Since Hay–Wells syndrome is present from birth, diagnosis is based on the physical appearance of an infant or young child.[ncbi.nlm.nih.gov]
  • They are all are present in the case reported. Citing Literature Number of times cited according to CrossRef: 5 D. Romero-Pérez, B. Encabo-Durán and R.[doi.org]
  • […] cardinal features and some of other features were present in our patient.[jiaomr.in]
Hunting
  • Webster, Vanessa Lopez-Pajares, Brook Vander Stoep Hunt, Kun Qu, Karen J. Yan, David R. Berk, George L. Sen and Paul A.[doi.org]
  • .; Lopez-Pajares, Vanessa; Vander Stoep Hunt, Brook; Qu, Kun; Yan, Karen J.; Berk, David R.; Sen, George L.; Khavari, Paul A. (2012).[en.wikipedia.org]
Nail Abnormality
  • Hair and nail abnormalities become more apparent as affected individuals grow older.[rarediseases.org]
  • This autosomal dominant disorder is associated with partial or complete hair loss, absent or dystrophic nails, abnormal dentition, anhidrosis, blocked tear ducts, webbed fingers and toes, superfluous nipples, and ear deformities. 2-4 Newborns with HWS[o-wm.com]
  • 129400) corresponds to a rare form of anhydrotic ectodermal dysplasia. 1 The RHS phenotype variably includes cleft lip/palate, small mouth, narrow nose, coarse and wiry hairs progressing to alopecia in adults, oligodontia or anodontia, hypoplasia of the nails[nature.com]
Weight Gain
  • These include short stature and poor weight gain with preservation of head circumference in nearly all subjects, trismus in 35% and hypospadias in 78% of males.[ncbi.nlm.nih.gov]
  • Weight gain issues, too. Hearing loss. This can lead to delays in learning to talk. Missing or unusually shaped nails. Skin erosion. This is loss of skin in some areas. It can be life-threatening in infants. Teeth problems.[webmd.com]
  • Poor weight gain, growth deficiencies and short stature can also occur.[rarediseases.org]
Pathologist
  • Speech pathologists use a variety of exercises to improve the patient's communication skills. Exercises typically start simple and become more complex as therapy continues.[naturallivingcenter.net]
Respiratory Distress
  • At birth, the child had bilateral cleft palate, a narrow pinched nose, small chin, and hypoplastic nipples, and suffered from respiratory distress, feeding difficulties, and poor weight gain, although developmental progress was normal.[ncbi.nlm.nih.gov]
Cyanosis
  • However, the patient was born with adherent eyelids of the right eye (ankyloblepharon), nasal block, cleft palate, mild cyanosis, and skin sepsis.[jiaomr.in]
Widely Spaced Teeth
  • spaced teeth Wide-spaced teeth Widely-spaced teeth [ more ] 0000687 5%-29% of people have these symptoms Abnormality of the voice Voice abnormality 0001608 Absent lacrimal punctum 0001092 Clinodactyly of the 5th finger Permanent curving of the pinkie[rarediseases.info.nih.gov]
  • spaced teeth and inadequate perspiration (partial anhidrosis).[cmaj.ca]
  • 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]
  • spaced teeth Occasionally present symptoms in 5-29% of the cases: Abnormality of the voice Absent lacrimal punctum Clinodactyly of the 5th finger Delayed eruption of teeth Finger syndactyly Protruding ear Supernumerary nipple Ventricular septal defect[dovemed.com]
Trismus
  • These include short stature and poor weight gain with preservation of head circumference in nearly all subjects, trismus in 35% and hypospadias in 78% of males.[ncbi.nlm.nih.gov]
  • Other anomalies are limb changes with syndactyly of fingers and toes most common, hypospadias (males 78%) and trismus (less frequently described). Failure to thrive, growth delay and gastrointestinal issues are also common.[orpha.net]
  • 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), and the inability to completely open the mouth (trismus[rarediseases.org]
Hydrops Fetalis
  • Tuenjai Chuangsuwanich, Prasert Sunsaneevithayakul, Kobkun Muangsomboon and Chanin Limwongse, Ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report[doi.org]
Alopecia
  • Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails[ncbi.nlm.nih.gov]
  • […] hypoplasia Spaced teeth Skin Anhidrosis Eroded skin at birth from limited to high percentage of body surface area Hyperkeratosis Hyperpigmentation Palmar and plantar keratoderma Patchy partial deficiency of sweat glands Peeling erythematous Sparse to alopecia[datagenno.com]
  • Skin erosions often persist intermittently for many years, evolving into alopecia and cutaneous scarring of the skin. Wound healing appears to be delayed.[orpha.net]
  • […] trait is transmitted in an autosomal dominant fashion with variable expressivity, although many sporadic cases have been described. 2 , 3 In addition to the classic triad of congenital anomalies, affected individuals may demonstrate varying degrees of alopecia[jamanetwork.com]
  • Examination of her scalp revealed alopecia with crusting, erythema and scaling ( Fig. 1 ). Her fingernails and toenails were abnormally formed ( Fig. 2 ).[cmaj.ca]
Thin Eyebrows
  • eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Submucous cleft hard palate 0000176 Submucous cleft soft palate 0011819 Widely spaced teeth Wide-spaced teeth Widely-spaced teeth[rarediseases.info.nih.gov]
  • eyebrow Sparse eyelashes Submucous cleft hard palate Submucous cleft soft palate Widely spaced teeth Occasionally present symptoms in 5-29% of the cases: Abnormality of the voice Absent lacrimal punctum Clinodactyly of the 5th finger Delayed eruption[dovemed.com]
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 midface hypoplasia, and the clinical feature of ankyloblepharon in AEC is often subtle, transient and a poor distinguishing clinical sign.[doi.org]
Vaginal Dryness
  • References Cardiovascular Abnormalities of septum Craniofacial Ankyloblepharon filiforme adnatum Broadened nasal bridge Cupshaped auricles Oval face Genitourinary Hypospadias of the male genitalia Micropenis Vaginal dryness or erosions Wilms tumor Hearing[datagenno.com]
  • dryness 0031088 Showing of 53 Last updated: 6/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging.[rarediseases.info.nih.gov]
  • dryness Based on the frequency of symptoms observed, the following information may be noted: Very frequently present symptoms in 80-99% of the cases: Ankyloblepharon Coarse hair Conductive hearing impairment Dystrophic fingernails Dystrophic toenail[dovemed.com]

Workup

  • […] source Muckle-Wells Syndrome ... 640 x 480 jpeg 47kB pic source Familial Cold Syndrome... 236 x 360 jpeg 15kB pic source Systemic Autoinflammat... 400 x 228 jpeg 28kB pic source Wells' syndrome after ... 722 x 286 jpeg 57kB pic source Wells Syndrome Workup[sammlungfotos.online]

Treatment

  • The treatment is aimed to prevent clinical complications.[ncbi.nlm.nih.gov]
  • Treatment - Hay-Wells syndrome The treatment of AEC syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists.[checkorphan.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

Prognosis

  • Prognosis Overall prognosis is good with most having normal life expectancy. Unfortunately infants with extensive skin erosions are at risk of premature death due to complications including sepsis and fluid/electrolyte abnormalities.[orpha.net]
  • Affected individuals or their parents should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. Many of the symptoms associated with AEC syndrome are present at birth (congenital).[rarediseases.org]
  • Diagnosis - Hay-Wells syndrome Prognosis - Hay-Wells syndrome Not supplied. Treatment - Hay-Wells syndrome The treatment of AEC syndrome is directed toward the specific symptoms that are apparent in each individual.[checkorphan.org]
  • Overall prognosis is good with most having normal life expectancy and only mild impact on quality of life and psychosocial functioning. References Hay RJ, Wells RS.[djo.org.in]

Etiology

  • While AEC and Rapp-Hodgkin had been thought to be clinically distinct entities, the elucidation of their molecular etiology confirmed that they are a clinical continuum as opposed to distinct disorders.[ncbi.nlm.nih.gov]
  • Etiology AEC is caused by typically missense mutations in the Tumor suppressor gene TP63. Over 4/5th of the reported mutations occur in the steril alpha motif domain, and about 1/5th occur in the transactivation inhibitory domain of TP63.[orpha.net]
  • (Etiology) Hay-Wells Syndrome is caused by mutations in the TP63 gene and is inherited in an autosomal dominant fashion (Source: Hay-Wells Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences[dovemed.com]
  • Paola Monti, Paola Ghiorzo, Paola Menichini, Giorgia Foggetti, Paola Queirolo, Alberto Izzotti and Gilberto Fronza, TP63 mutations are frequent in cutaneous melanoma, support UV etiology, but their role in melanomagenesis is unclear, Oncology Reports,[doi.org]
  • The exact etiology of this condition is unknown.[eyewiki.aao.org]

Epidemiology

  • Summary Epidemiology The prevalence of AEC is unknown. Clinical description A history of skin erosions, especially of the scalp neonatally is typical. Congenital erythroderma occurs in 78%.[orpha.net]
  • 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]
  • 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]
  • Epidemiology and Demographics Bloom syndrome is a very rare disorder in most populations, and its overall frequency is unknown.[wikidoc.org]
  • Clinical and epidemiologic studies of cleft lip and palate in the Philippines. Cleft Palate Craniofac J 1997 ; 34 : 7 –10. Hagiwara K , McMenamin MG, Miura K, Harris CC.[jmg.bmj.com]
Sex distribution
Age distribution

Pathophysiology

  • David Bloom in 1954 Pathophysiology Genetics Mutations in the BLM gene (locus 15q26.1) cause Bloom syndrome.[wikidoc.org]
  • Clinical categories of exaggerated skin reactions to mosquito bites and their pathophysiology. J Dermatol Sci . 2016 Jun. 82 (3):145-52. [Medline] . Plotz SG, Abeck D, Behrendt H, Simon HU, Ring J. [Eosinophilic cellulitis (Wells syndrome)].[emedicine.medscape.com]
  • […] 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]
  • .  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]

Prevention

  • The treatment is aimed to prevent clinical complications.[ncbi.nlm.nih.gov]
  • How can Hay-Wells Syndrome be Prevented? Currently, Hay-Wells Syndrome may not be preventable, since it is a genetic disorder.[dovemed.com]
  • Efforts to prevent secondary infections in skin erosions comprise gentle wound care and dilute bleach soaks. Secondary infections should be cultured and treated appropriately.[orpha.net]
  • Prevention - Hay-Wells syndrome Not supplied. Diagnosis - Hay-Wells syndrome Prognosis - Hay-Wells syndrome Not supplied.[checkorphan.org]
  • Prevention General : Because Hay-Wells syndrome, or AEC syndrome, is inherited, there is currently no known way to prevent the disease. However, a number of options are available for prospective parents with a family history of AEC syndrome.[naturallivingcenter.net]

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