[…] deformities,10 all of which were present in the patient in question. [scielo.br]

[…] cardinal features and some of other features were present in our patient. [jiaomr.in]

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]

More recently, the patient presented palmoplantar hyperkeratosis. Neither cleft lip nor palate was present. Diagnosis of ectodermal dysplasia syndrome was proposed, more specifically of Hay-Wells (AEC) syndrome. [actasdermo.org]

The present report describes the case of a 17-yearold white boy, the son of nonconsanguineous parents, who presented ankyloblepharon filiforme adnatum, ectodermal dysplasia and a cleft palate at birth, which are considered cardinal signs of this syndrome [scienceopen.com]

• 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]

  (Courtesy of the National Foundation for Ectodermal Dysplasias) Sparse eyebrows and eyelashes Nail abnormalities are variable (micronychia, hyperconvexity, thickened nail plates, frayed distal edge with nail plate resorption, pseudopterygium formation [dermatologyadvisor.com]

• Alopecia

  Common ectodermal defects include alopecia, onychodystrophy, hypodontia and hypohidrosis. [scielo.br]

  It is an autosomal dominant disorder characterized by findings of ectodermal dyplasia including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip-palate (1). [semanticscholar.org]

  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]

  Diffuse erosive inflammation of the scalp caused by extensive epithelial defects with consecutive scarred alopecia. The skin is reddish at birth, shows coarse lamellar scaling and mostly palmo-plantar keratoses. [altmeyers.org]

  There was reticulate hyperpigmentation of the skin with sparseness of body hair, and scalp showed an 8 cm × 8 cm patchy scarring alopecia with scaling [Figure 2]. [journals.lww.com]

• Plantar Hyperkeratosis

  Dry, scaly patches of skin may form on the palms and soles (palmar-plantar hyperkeratosis) as well as tiny, hardened bumps (punctate keratoderma). Increased numbers and depth of skin lines on the palms may also occur (hyperlinearity). [rarediseases.org]

[…] 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]

Hay-Wells Syndrome Treatment Market Scope and Market Size The Hay-Wells syndrome treatment market is segmented on the basis of treatment, diagnosis, symptoms, end-users and distribution channel. [databridgemarketresearch.com]

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]

Standard Therapies Treatment 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. [rarediseases.org]

The treatment is aimed to prevent clinical complications. [ncbi.nlm.nih.gov]

Patient was under treatment of a speech therapist at the Municipal Hospital. Patient's parents were advised to protect him from heat and to maintain proper hydration. [jiaomr.in]

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]

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]

[…] information about: • Symptoms, signs of disease and prevention • Exams, diagnosis, screening and tests • Stages of disease, types of diseases, and risk factors • Research, treatment options, and alternatives • Procedures, surgery and post op recovery • Prognosis [amazon.fr]

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]

Recently, mutations in the p63 gene have been shown to be etiologic in the majority of cases of Hay-Wells syndrome. [go.gale.com]

The exact etiology of this condition is unknown. [eyewiki.aao.org]

NEW YORK -- Also known as eosinophilic cellulitis, Wells' syndrome is an uncommon condition of unknown etiology. [medical-dictionary.thefreedictionary.com]

Patient Epidemiology Analysis Global Hay-Wells syndrome treatment market also provides you with detailed market analysis for patient analysis, prognosis, and cures. [databridgemarketresearch.com]

You might also be interested in Dermatology Occurrence/Epidemiology This section has been translated automatically. So far, less than 50 cases in 20 families have been reported. Etiopathogenesis This section has been translated automatically. [altmeyers.org]

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]

David Bloom in 1954 Pathophysiology Genetics Mutations in the BLM gene (locus 15q26.1) cause Bloom syndrome. [wikidoc.org]

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]

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]

 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]

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]

Prevention - Hay-Wells syndrome Not supplied. Diagnosis - Hay-Wells syndrome Prognosis - Hay-Wells syndrome Not supplied. [checkorphan.org]

The icons link you to the search engines and uncover the results containing the best available information about: • Symptoms, signs of disease and prevention • Exams, diagnosis, screening and tests • Stages of disease, types of diseases, and risk factors [amazon.fr]