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

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

Case presentation Two siblings, patient 1 and patient 2, presented with fragile and brittle hair since birth associated with extreme sensitivity in sun-exposed areas (figure 1). [ncbi.nlm.nih.gov]

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]

This defect is not present in the nonphotosensitive TTD's. [15] These type of defects can result in other rare autosomal recessive diseases like xeroderma pigmentosum and Cockayne syndrome. [16] See also Skin lesion List of cutaneous conditions References [ipfs.io]

• Anemia

  These include ataxia telangiectasia, Nijmegen breakage syndrome, some subgroups of xeroderma pigmentosum, trichothiodystrophy, Fanconi anemia, Bloom syndrome and Rothmund-Thomson syndrome. [diki.pl]

  Blood examination showed anemia(6.13 g/100ml), with leucocytosis. Biopsy of thecutaneous nasal tumor showed a well-differentiated,invasive squamous carcinoma (Fig. 2); biopsy of apustule showed spongiotic features. [docslide.com.br]

  Reduced fertility • Reduced imune system / increased • Dental problems / tooth decay • Nutritional problems • Motor problems • Loss of hearing • Sense of vision • Nutritional problems • Frequent infections • Frequent maternity and birth complications • Anemia [amyandfriends.org]

  […] occasionally been reported – p53 mutations • 90% lifetime risk of developing cancer – Most commonly sarcomas, leukemia, and breast cancer • Poikilodermatous changes • Nails • Precancerous leukoplakia of mouth • Tearing • Absent fingerprints • MR, deafness, anemia [brainscape.com]

  Other systemic complications of TTD may include decreased fertility (from gonadal dysgenesis), bone abnormalities, contractures, cardiomyopathy and anemia. [dermatologyadvisor.com]

• 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]

  He progressed with short stature and marked delay in the neurologic and psychomotor development, spasticity, paraplegia, ophthalmologic disturbances (esotropia), episodes of bronchospasm and intestinal constipation. [anaisdedermatologia.org.br]

• Dental Caries

  For unknown reasons, TTD patients are particularly prone to dental caries. Therefore, they require meticulous dental care. [dermatologyadvisor.com]

  Patients with CS have a combination of sun sensitivity, short stature, severe neurologic abnormalities due to dysmyelination, cataracts, dental caries, a wizened appearance, and a characteristic bird-like facies. [ommbid.mhmedical.com]

• Esotropia

  He progressed with short stature and marked delay in the neurologic and psychomotor development, spasticity, paraplegia, ophthalmologic disturbances (esotropia), episodes of bronchospasm and intestinal constipation. [anaisdedermatologia.org.br]

• 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]

  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]

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

  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]

  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]

  […] 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]

  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]

  Keywords: Genetics Ichthyosis Trichothiodystrophy Syndromes Full Text Case Report We present a three-year-old male patient, with dry skin since birth and onset of scaling at 4 months of life. [anaisdedermatologia.org.br]

  He also presented with brittle hair, koilonychia and dry skin, along with marked sun sensitivity, seen as sunburns episodes and chronic photodamage signs such as ephelides, actinic cheilitis and eye alterations. [ncbi.nlm.nih.gov]

• Koilonychia

  The ectodermal changes included ichthyosis, severe flexural eczema, and brittle, hypoplastic nails with koilonychia. [accesspediatrics.mhmedical.com]

  He also presented with brittle hair, koilonychia and dry skin, along with marked sun sensitivity, seen as sunburns episodes and chronic photodamage signs such as ephelides, actinic cheilitis and eye alterations. [ncbi.nlm.nih.gov]

  Many TTD patients also have nail findings, including but not limited to onychodystrophy, brittle nails, hypoplasia, koilonychia, onychoschizia (nail splitting), and ridging. [dermatologyadvisor.com]

• Pruritus

  In the follow-up visits, it was evidenced extreme sun sensitivity, with many sunburn episodes and marked sun damage signs in photo-exposed areas such as the neck and face as well as marked pruritus and erythematous patches in the antecubital and popliteal [ncbi.nlm.nih.gov]

• 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]

• Tremor

  Dry scaly skin * Sulfur deficiency in hair * Sparse hair * Delayed physical development * Red skin * Prematurely aged appearance * Beaked nose * Receding chin * Protruding ears * Low birth weight * Short stature * Neurosensory deafness * Seizures * Tremors [checkorphan.org]

  It consists of: Treatment of specific signs and symptoms: Physiotherapy to loosen joints, correct posture defects, and keep muscles supple Medication to relax spastic muscles, and treat tremors Special education for learning difficulties Prevention of [news-medical.net]

  In addition, TTD children can have tremors and difficulty coordinating fine and gross muscle coordination. A few patients have developed seizures. [rarediseases.org]

• Dysarthria

  Neurologic disturbances are common: growth and development retardation, motor or intellectual difficulties, microcephaly, ataxia, neurosensory deafness, spasticity, paresis or paralysis, dysarthria, among others. [anaisdedermatologia.org.br]

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]

Treatment 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]

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

[…] in the overall prognosis 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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

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]

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

[…] 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]