Transient bullous dermolysis of the newborn (TBDN) is a skin condition that presents in newborns. [en.wikipedia.org]

PAS-positive inclusions were present in the cytoplasm of a few basal cells. Examination by electron microscopy showed degeneration of the collagen and anchoring fibrils. [ncbi.nlm.nih.gov]

We present 3 new patients with transient bullous dermolysis of the newborn (TBDN), which is a form of dystrophic epidermolysis bullosa. [eurekamag.com]

In transient bullous der-molysis of the newborn, the lesions are present at birth or shortly thereafter. [rrnursingschool.biz]

• Dentist

  However, EB is a systemic disease whose management requires input from clinicians in virtually all fields of medicine, including pediatri cians, surgeons, dentists, gastroenterologists, hematologists, otorhinolaryn gologists, dietitians, and physical [books.google.com]

  These people may include the primary care physician (often a pediatrician), the dermatologist, the nurse, the pediatric dentist, the specialist in gastrointestinal (digestive) diseases, the dietitian or nutritionist, the plastic surgeon, the psychologist [blog.ebinfoworld.com]

• Inguinal Hernia

  CONCLUSIONS: The coexistence of BDN and indirect inguinal hernia may simply be coincidental. [ncbi.nlm.nih.gov]

• Skin Patch

  Showing of 11 30%-79% of people have these symptoms Atrophic scars Sunken or indented skin due to damage 0001075 Hypopigmented skin patches Patchy loss of skin color 0001053 Milia Milk spot 0001056 Nail dystrophy Poor nail formation 0008404 Oral mucosal [rarediseases.info.nih.gov]

• Hypopigmented Skin

  Showing of 11 30%-79% of people have these symptoms Atrophic scars Sunken or indented skin due to damage 0001075 Hypopigmented skin patches Patchy loss of skin color 0001053 Milia Milk spot 0001056 Nail dystrophy Poor nail formation 0008404 Oral mucosal [rarediseases.info.nih.gov]

• Beak Nose

  nose, Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly Junctional epidermolysis bullosa generalized intermediate Synonyms: JEB-nH, Epidermolysis bullosa, junctional, non-Herlitz type, Epidermolysis bullosa junctionalis, [rarediseases.info.nih.gov]

• Beaked Nose

  nose, Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly Junctional epidermolysis bullosa generalized intermediate Synonyms: JEB-nH, Epidermolysis bullosa, junctional, non-Herlitz type, Epidermolysis bullosa junctionalis, [rarediseases.info.nih.gov]

• Neglect

  For patients, insult is thus added to injury and they feel abandoned, neglected, and frustrated. [books.google.com]

• Forgetful

  If you like this forum, please don't forget to tell your friends about Forum Jar. [nicehub.com]

Routine light microscopy is not recommended as part of the conventional diagnostic workup, given the low sensitivity and specificity in being able to accurately distinguish among even the 4 major EB types by routine staining techniques. [online.epocrates.com]

One way to remedy this deplorable situation is to provide clinicians with a compact source of information de tailing the principles of EB diagnosis and treatment. This text seeks to fulfill this role. [books.google.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Treatment - Transient bullous dermolysis of the newborn Not supplied. Resources - Transient bullous dermolysis of the newborn Not supplied. [checkorphan.org]

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]

[…] period for Transient bullous dermolysis of the newborn, survival rates, death rates, and other outcome possibilities in the overall prognosis of Transient bullous dermolysis of the newborn. [checkorphan.org]

Although pemphigus and bullous pemphigoid have overall good prognoses, linear IgA bullous dermatoses has a poor prognosis and requires aggressive treatment. [journals.lww.com]

For both EBS-loc and EBS, gen-nonDM, life expectancy is normal and the overall prognosis is good. [clinicalgate.com]

The morphology of the cutaneous lesions, its favorable prognosis and the subepidermal level of the cleavage in the skin based on histology (light microscopy and electron mi- croscopy), characterize the entity. [docslide.fr]

[…] fibrils. 27 DEB is characterized by abnormal fibrils and blister formation beneath the lamina densa of the dermoepidermal junction. 28 The ultrastructural findings of skin in DEB often reflect the severity of clinical disease and can be an indicator of prognosis [nature.com]

TBDN has been grouped separately from dystrophic epidermolysis bullosa based on the pronounced morphologic features and the self-limiting course of the disorder; however, it remains unclear whether it represents a distinct clinical entity with a single etiology [ncbi.nlm.nih.gov]

Etiology Transient bullous dermolysis of the newborn is caused by mutations within the type VII collagen gene ( COL7A1 ). Mutations in this gene lead to reduced amounts or an alteration in function of collagen VII. [rarediseases.info.nih.gov]

Lesions with findings such as vascular flushing, tethering (which may be a sign of a dural attachment), or abnormal surrounding hair may signal further abnormalities and warrant evaluation. 1, 4 The etiology of this disease is unclear and appears to be [aafp.org]

'Update on the pathogenesis of squamous cell carcinoma development in recessive dystrophic epidermolysis bullosa', European Journal of Dermatology, vol. 25, pp. 30 - 32, Hon KL E;Li JJ;Cheng BL;Luk DC;Murrell DF;Choi PC L;Leung AK C, 2015, 'Age and etiology [research.unsw.edu.au]

This finding proved to be the basis for the eventual identification of the molecular etiology of RDEB since one year previously Lunstrom and colleagues had shown that the anchoring fibril, a basement membrane-associated structure known for many years [blog.ebinfoworld.com]

[…] dermolysis of the newborn - DEB-BDN Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Epidemiology Prevalence is unknown. Less than 30 cases have been reported to date. Clinical description The disease usually manifests at birth. Skin blisters generally affect the whole body. Blisters can also affect the oral cavity. [rarediseases.info.nih.gov]

[…] practice in Australia', International Journal of Dermatology, vol. 53, pp. 1259 - 1264, Ludwig RJ;Borradori L;Diaz LA;Hashimoto T;Hertl M;Ibrahim SM;Jonkman MF;Kitajima Y;Murrell DF;Schmidt E;Shimizu H;Stanley JR;Woodley DT;Zillikens D, 2014, 'From epidemiology [research.unsw.edu.au]

J Am Acad Dermatol 24: I 19-135, 1991. 5: Breslow NE, Beckwith JB: Epidemiological features of Wilms tumor: Results of the National Wilms Tumor Study. [docslide.fr]

The epidemiology of inherited epidermolysis bullosa. Findings in US, Canadian, and European study populations. In: Fine JD, Bauer EA, McGuire J, Moshell A, editors. [nature.com]

Genetic counselling in such patients therefore should be guarded until the pathophysiology of TBDN is better understood", author "H Fassihi and Diba, {V C} and V Wessagowit and Dopping-Hepenstal, {P J C} and Jones, {C A} and Burrows, {N P} and McGrath [kclpure.kcl.ac.uk]

Genetic counselling in such patients therefore should be guarded until the pathophysiology of TBDN is better understood. [ncbi.nlm.nih.gov]

Prevention - Transient bullous dermolysis of the newborn Not supplied. [checkorphan.org]

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Therapy should be directed toward prevention of skin trauma to avoid new blister formation, prevention of secondary bacterial infection, aggressive treatment of infection when it occurs, measures to improve wound healing, maintenance of good nutrition [nature.com]

MAK3 subfamily (362 aa) 0.987 HYPK Huntingtin-interacting protein K; Has a chaperone-like activity preventing polyglutamine (polyQ) aggregation of HTT. Protects against HTT polyQ-mediated apoptosis in Neuro2a neuronal cells. [string-db.org]

Title: The chaperone-like protein HYPK acts together with NatA in cotranslational N-terminal acetylation and prevention of Huntingtin aggregation. Essential role in cell survival through protein N-alpha-acetylation. [ncbi.nlm.nih.gov]