Symptoma

PIBIDS Syndrome

Trichothiodystrophy

A dictionary of medical eponyms Related people Chong Hai Tay A very rare syndrome affecting both sexes and present from birth. [whonamedit.com]

Ichthyosis with brittle hair, intellectual impairment, decreased fertility and short stature PIBIDS syndrome Tay syndrome Trichothiodystrophy photosensitive Trichothiodystrophy with congenital ichthyosis TTDP Keywords Any medical or genetic information present [uniprot.org]

Since child-hood, the patient presented multiples ares of scalingerythroderma, secondary loss of teeth, hair loss,repeated otitis and conjunctivitis, and photosensitiv-ity; this patient had abnormal and persistent erythemaafter slight sun exposure, but [docslide.com.br]

Modern covering usage is TTD-P (photosensitive), and TTD. [2] Presentation [ edit ] Features of TTD can include photosensitivity, icthyosis, brittle hair and nails, intellectual impairment, decreased fertility and short stature. [en.wikipedia.org]

This defect is not present in the nonphotosensitive TTD's. These type of defects can result in other rare autosomal recessive diseases like xeroderma pigmentosum and Cockayne syndrome. 声明：以上百科文字由Wikimedia Foundation基于Creative Commons协议之条款提供。 [dict.eudic.net]

  • Increased Susceptibility to Infections

    Other associated findings may include short stature, progeria-like facies, history of collodion membrane at birth, hypogonadism, microcephaly, increased susceptibility to infections, intellectual impairment, delayed neuromuscular development, cataract [ijpd.in]

  • Weight Gain

    Due to feeding problems and poor weight gain, some TTD children will have feeding tubes (either gastrostomy or nasogastric tubes) placed to augment oral feeding. [rarediseases.org]

    • low level weight gain. The hair-shaft is brittle – it fractures and severs on emergence from its host follicle. The overall appearance being of short, sparse hair. Eyebrows and eyelashes may be inculcated. [hairscientists.org]

  • Progressive Mental Retardation

    Kinky hair, photosensitivity, broken eyebrows and eyelashes, and non progressive mental retardation. J Pediatrics, 95, 1007–1008, 1979 CrossRef Google Scholar 3. Coulter DL, Beals TF, Allen RJ. [link.springer.com]

  • Foul Smelling Discharge

    He also had bilateral low-set ears, ectropion, yellowish foul-smelling discharge on the umbilical stump, left undescended testes, with normal neurologic examination. [ijpd.in]

  • Disturbance of Growth

    We delineate the criteria for distinguishing this gene defect from other types of congenital ichthyosis associated with disturbed hair growth, as well as from other types of trichothiodystrophy which are not associated with ichthyosis. [link.springer.com]

  • Low Set Ears

    He also had bilateral low-set ears, ectropion, yellowish foul-smelling discharge on the umbilical stump, left undescended testes, with normal neurologic examination. [ijpd.in]

  • Normal Stature

    A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature. Birth Defects, 12, 219–228, 1976 PubMed Google Scholar 19. Venning VA, Dawber RPR, Ferguson DJP, Kanan MW. [link.springer.com]

  • Alopecia

    Patient had alopecia on the frontal, temporal and vertex of the scalp. [ijpd.in]

    Traupe H, Happle R (1983) Alopecia ichthyotica. A characteristic feature of congenital ichthyosis. Dermatologica (Basel) 167: 225–230 Google Scholar Copyright information Authors and Affiliations R. Happle 1 H. Traupe 1 H. Gröbe 2 G. Bonsmann 1 1. [link.springer.com]

    ichythyosis, follicular atrophoderma, stippled epiphyses, cataract Focal Dermal Hypoplasia (Goltz Syndrome) PORCN gene, regulator of Wnt signaling Brittle alopecia, fat herniation in Blaschko's lines, congenital absence of skin focal dermal hypoplasia [quizlet.com]

    While brittle hair, sparse hair, or alopecia are not life-threatening conditions, their effect on a patient’s psyche can be substantial. Encourage patients to take a conservative approach to hair dressing. [dermatologyadvisor.com]

    […] intracorneal blood, disseminated punctuate intraepidermal hemorrhage, black palm, playstation thumb, tennis toe) Targetoid Hemosiderotic Hemangioma (Hobnail Hemangioma) Telangiectasia (generalized essential telangiectasia) Telogen Effluvium (Stress-Induced Alopecia [pulmonologyadvisor.com]

  • Keratosis

    It has been reported in many cases of TTD, that follicular keratosis (a cutaneous condition characterized by a horny growth) may be a sign of ichthyosis (PFOND, 2012). c. [hairscientists.org]

  • Normal Hair

    Proteins of normal hair and of cystine-deficient hair from mentally retarded siblings. Biochem J, 122, 433–444, 1971 PubMed Google Scholar 31. Jorizzo JL, Crounse RG, Wheeler CE. [link.springer.com]

  • Beaked Nose

    nose * Receding chin * Protruding ears * Low birth weight * Short stature * Neurosensory deafness * Seizures * Tremors * Undescended testes * Underdeveloped female genitalia * Absence of female breast tissue * Photosensitivity Causes - PIBIDS syndrome [checkorphan.org]

    […] increase in skin cancer – Complementation group B, D and G • AR • RECQL2 – DNA helicase Werner Syndrome (Adult Progeria) • Scleroderma-like changes • Beaked nose • CAD Werner Syndrome (Adult Progeria) Hutchinson-Gilford/Progeria • Premature aging • Death [brainscape.com]

  • Apathy

    Intellectual impairment Mental retardation with low IQ, delayed physical maturation, defects in the development of the nervous system, lethargy (a lowered level of consciousness, with drowsiness, listlessness and apathy), irritability and unusual social [hairscientists.org]

  • Delayed Menarche

    Absent breast tissue, oligomenorrhea (infrequent or very light menstruation) and delayed menarche (first menstrual period) have been reported in female patients with under developed genitalia. [hairscientists.org]

  • Oligomenorrhea

    Absent breast tissue, oligomenorrhea (infrequent or very light menstruation) and delayed menarche (first menstrual period) have been reported in female patients with under developed genitalia. [hairscientists.org]

Treatments It can't be cured, but treatments can help you manage dry and scaly skin. Continued Rub cream, lotion, or ointment onto your skin every day to add moisture. [webmd.com]

There is no specific treatment. Also Known As Trichothiodystrophy - sun sensitivity Trichothiodystrophy type F [medicbind.com]

Treatment - PIBIDS syndrome Tay-Sachs disease has no known cure. [checkorphan.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]

Prognosis - PIBIDS syndrome More about prognosis of PIBIDS syndrome TopUser Interactive Forums.The \'prognosis\' of PIBIDS syndrome usually refers to the likely outcome of PIBIDS syndrome. [checkorphan.org]

Neoplastic risk this familial disease IS NOT a cancer prone disease but it involves the same complementation groups as in xeroderma pigmentosum and Cockayne syndrome (XPD, XPB), and share defects in similar genes Prognosis depends on the DNA repair defect [atlasgeneticsoncology.org]

The overall prognosis is generally favourable except for cosmetic facial problems and handicap from eye and ear anomalies. Intelligence is usually not affected. There is a 3% for a future pregnancy 6. [radiopaedia.org]

Etiology TTD is an autosomal recessive disease caused by mutations in one of three DNA repair genes (XPB, XPD, or TTDA), or in TTDN1, a gene with unknown function(s). [dermatologyadvisor.com]

Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol 2003;4(2):81-95. Itin PH, Sarasin A, Pittelkow MR. Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. [rarediseases.org]

Pathophysiology The genes XPB, XPD, and TTDA are involved in nucleotide excision repair and basal transcription as part of the basal transcription factor IIH (TFIIH). [dermatologyadvisor.com]

Anticonvulsants usually fail to prevent seizures. [checkorphan.org]

The goal of treatment is to prevent drying, cracking and splitting of the skin, which may predispose to secondary skin infections. [dermatologyadvisor.com]

[…] sunburn by use of sunglasses and sunscreen creams, and proper protective clothing Treatment of eye and hearing problems as needed Preventive care Physical therapy to prevent loss of ambulation Ensuring a safe environment to prevent falls and further [news-medical.net]

However, preventive measures are identical: NO halogenated agent NOR succinylcholine. [sites.uclouvain.be]

Prevention from sun induced skin damage especially for patients with photosensitive TTD is important. Dietary cytosine supplementation is sometimes recommended. [hairscientists.org]