Presentation Features of TTD can include photosensitivity, icthyosis, brittle hair and nails, intellectual impairment, decreased fertility and short stature. [owlapps.net]

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

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]

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]

• HELLP Syndrome

  Mothers of children with trichothiodystrophy may experience problems during pregnancy including pregnancy-induced high blood pressure ( preeclampsia ) and a related condition called HELLP syndrome that can damage the liver. [ghr.nlm.nih.gov]

  Mothers of children with trichothiodystrophy may experience problems during pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a related condition called HELLP syndrome that can damage the liver. [medlineplus.gov]

  While there are no documented risk factors for the development of TTD, approximately 1/3 of individuals were born from a pregnancy complicated by abnormalities such as preeclampsia or even HELLP syndrome. [dermatologyadvisor.com]

  Symptoms/Signs Signs that a woman might be pregnant with a child that has TTD include: o preeclampsia, high blood pressure and excess protein in the urine after 20 weeks of pregnancy o HELLP syndrome, a life threatening liver disorder thought to be a [hairscientists.org]

• 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]

• 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]

• Pharyngitis

  Supportive treatment includes tube feedings of nutritional supplements, suctioning and postural drainage to remove pharyngeal secretions, skin care to prevent pressure ulcers in bedridden children, and mild laxatives to relieve neurogenic constipation [checkorphan.org]

• Constipation

  Supportive treatment includes tube feedings of nutritional supplements, suctioning and postural drainage to remove pharyngeal secretions, skin care to prevent pressure ulcers in bedridden children, and mild laxatives to relieve neurogenic constipation [checkorphan.org]

• Receding Chin

  chin * Protruding ears * Low birth weight * Short stature * Neurosensory deafness * Seizures * Tremors * Undescended testes * Underdeveloped female genitalia * Absence of female breast tissue * Photosensitivity Prognosis More about prognosis of PIBIDS [checkorphan.org]

  TTD children often have a smaller receding chin, and larger appearing ears. Onychodystrophy, an alteration of nail development, is a common finding in TTD. The nails may be abnormally short, broad and ridged, and may be soft and split easily. [rarediseases.org]

• 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]

• 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]

• Alopecia

  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]

  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]

  Other conditions to be considered ☞Brittle Hair and Mental Deficit Syndrome: Genetic disorder characterized by abnormal hair fibers, short stature, sterility, alopecia from the birth, and very rare axillary and pubic hair after puberty. [accesspediatrics.mhmedical.com]

  A constellation of dermatologic signs including alopecia, skin hyperpigmentation and nail dystrophy associated with gastrointestinal (GI) symptoms like diarrhea, abdominal pain, intestinal malabsorption and weight loss suggest the diagnosis of Cronkhite-Canada [rheumatologyadvisor.com]

• Sparse Hair

  * Dysplastic nails * Congenital cataracts * Spasticity * Impaired ability to control voluntary movements * Decreased fertility * Dry scaly skin * Sulfur deficiency in hair * Sparse hair * Delayed physical development * Red skin * Prematurely aged appearance [checkorphan.org]

  […] prominent fine white scaling without any erythema as ichthyosiform dermatitis over much of the body that was most prominent on the extensor surface of the upper and lower extremities, palmoplantar dryness and hyper linearity and short, unruly, irregular sparse [ijtrichology.com]

  fine hair, thin nails, loose skin in infancy cone-shaped epiphyses, pear-shaped broad nose p63 mutation wiry sparse hair, PPK, dystrophic nails, cleft lip, palate, absent Ectrodactyly-Ectodermal Dysplasia Clefting EEC, mutation in p63 GU defects, blue [quizlet.com]

  Physical examination of a patient’s hair shows brittle, fragile, sparse and short hairs, the end product of hairs becoming exposed to the environment. Most patients also have sparse eyebrows and eyelashes (Fig. 1). [hairscientists.org]

• Dry Skin

  It can't be cured, but treatments can relieve the scaling and make you feel more comfortable in your own skin. Ichthyosis is not one disease, but a family of about 20 skin conditions that lead to dry skin. [webmd.com]

  Physical examination revealed severe dry skin with prominent fine white scaling without any erythema as ichthyosiform dermatitis over much of the body that was most prominent on the extensor surface of the upper and lower extremities, palmoplantar dryness [ijtrichology.com]

  Skin symptoms of dry skin (ichthyosis) are treated by applying skin softening emollients and products containing alpha-hydroxy acids which help break down skin buildup (keratolytics).This can be particularly effective after bathing while the skin is still [rarediseases.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 Prognosis More about prognosis [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]

• 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]

• 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]

• Poor Coordination

  Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts ); poor coordination; and skeletal abnormalities. [ghr.nlm.nih.gov]

  Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities. [medlineplus.gov]

  In severe cases, patients may have very poor mental and motor performance. However, despite these intellectual impairments, they are social, friendly, outgoing and engaging. f. [hairscientists.org]

  Ongoing physical therapy may be advised for joint stiffness, muscle tightening (contractures), and poor coordination. [rarediseases.org]

• 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]

• Encephalopathy

  see acute necrotizing encephalopathy type 1 potassium-aggravated myotonia Potocki-Shaffer syndrome PPCA deficiency, see galactosialidosis PPH, see pulmonary arterial hypertension PPHT, see pulmonary arterial hypertension PPK mutilans Vohwinkel, see [herenciageneticayenfermedad.blogspot.com]

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

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]

The prognosis is typically poor for children with severe disease and the median age of death is reported as 3 years. [dermnetnz.org]

Qualifiers English: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology [decs2020.bvsalud.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]

Note English: 2008 Allowable Qualifiers English: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology [decs2020.bvsalud.org]

Pathophysiology Pollitt Syndrome is likely caused by a mutation in the TTDN1/C7orf11 (trichothiodystrophy nonphotosensitive) gene. [accesspediatrics.mhmedical.com]

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]

[…] 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]

[…] diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PS parasitology PA pathology PP physiopathology PC prevention [decs2020.bvsalud.org]

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