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]

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]

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]

• Recurrent Infection

  Trichothiodystrophy is also associated with recurrent infections, particularly respiratory infections, which can be life-threatening. [medlineplus.gov]

  The clinical phenotype of trichothiodystrophy varies from mild disease with only hair abnormalities to severe disease with recurrent infections and severe developmental defects. [dermnetnz.org]

  Many patients have recurrent infections, and abnormalities of the bone and teeth may also occur. [healthmedicinet.com]

  This blood protein is also important in fighting infections and some TTD children have received IgG infusions to help treat the recurrent infections. [rarediseases.org]

• Sepsis

  During the neonatal and childhood period, there is substantial morbidity and mortality, with pneumonia and other infections (particularly sepsis) being the leading causes of death [1]. See smartphone apps to check your skin. [dermnetnz.org]

  In a recent series, the signs of MH appeared 60 to 199 minutes after the beginning of anesthesia and in 23% of the cases during awakening or in the recovery room. differential diagnosis of an MH attack: sepsis, iatrogenic overheating, major hypoventilation [sites.uclouvain.be]

• Collapse

  […] patient with crushed ice bags - stop as soon as the core temperature reaches 37 °C to avoid hypothermia in case of cardiac rhythm disorders - use antiarrhythmic drugs according to the usual algorithms except anticalcic drugs (risk of cardiovascular collapse [sites.uclouvain.be]

• Pneumonia

  During the neonatal and childhood period, there is substantial morbidity and mortality, with pneumonia and other infections (particularly sepsis) being the leading causes of death [1]. See smartphone apps to check your skin. [dermnetnz.org]

  Variable photosensitivity with no neurological abnormality • Photosensitivity • MR • Cachetic dwarfism • “Bird facies” and “Mickey Mouse ears” • Cataracts, deafness and others • Infection – Death from pneumonia • AR, Cross-complementing group 8 gene—ERCC8 [brainscape.com]

  A significant number of TTD patients have abnormalities of the immune system and develop recurrent infections, including pneumonia and gastroenteritis. These infections can be difficult to manage leading to prolonged hospitalizations. [rarediseases.org]

• Strabismus

  […] growth retardation, pre-eclampsia and eclampsia, premature birth < 37 weeks' gestation, and low birth weight) Intellectual impairment or developmental delay (85% of cases) Short stature (73% of cases) Ocular abnormalities including congenital cataracts, strabismus [dermnetnz.org]

  Cataracts, nystagmus, strabismus, photophobia, ectropion are among the ocular manifestations. [anaisdedermatologia.org.br]

  TTD patients are also prone to develop cataracts and other ocular abnormalities (nystagmus, strabismus, myopia, etc.) at an early age, with some manifesting at birth. [dermatologyadvisor.com]

  […] spontaneous pneumothorax psychosine lipidosis, see Krabbe disease PTD, see Björnstad syndrome pterygium syndrome, see multiple pterygium syndrome PTHS, see Pitt-Hopkins syndrome ptosis of eyelids with diastasis recti and hip dysplasia, see 3MC syndrome ptosis-strabismus-rectus [herenciageneticayenfermedad.blogspot.com]

• Osteopenia

  (horizontal and vertical eye deviations), and nystagmus (involuntary eye movements) approximately 50% of cases Rheumatological abnormalities including joint contractures and dislocations, axial osteosclerosis (abnormal hardening of bone), and distal osteopenia [dermnetnz.org]

  Skeletal abnormalities, such as osteosclerosis, osteopenia, kyphosis, joint contractures and teeth abnormalities with enamel hypoplasia and increased number of caries are described. [anaisdedermatologia.org.br]

  Radiographic abnormalities include peripheral osteopenia and central osteosclerosis, while brain magnetic resonance imaging (MRI) scans may demonstrate hypomyelination of the white matter with enlarged ventricles in some patients as well as basal ganglia [dermatologyadvisor.com]

  They also have thinner bone (osteopenia) in the peripheral bones of the lower arms, hands and feet. The bone symptoms can vary between people with the condition. TTD patients often have poorly developed teeth. [rarediseases.org]

• Brittle Hair

  BIDS syndrome, also called Amish brittle hair brain syndrome and hair-brain syndrome, [2] is an autosomal recessive [3] inherited disease. It is nonphotosensitive. [ipfs.io]

  The disease is characterised by cysteine-deficient brittle hair along with other neuroectodermal abnormalities. [ncbi.nlm.nih.gov]

  IBIDS syndrome, following the acronym from ichthyosis, brittle hair and nails, intellectual impairment and short stature, is the Tay syndrome or sulfur-deficient brittle hair syndrome, first described by Tay in 1971. [owlapps.net]

  BIDS syndrome, also called Amish brittle hair brain syndrome and hair-brain syndrome, is an autosomal recessive inherited disease. It is nonphotosensitive. [dict.eudic.net]

  Trichothiodystrophy Other names Amish brittle hair syndrome, BIDS syndrome, brittle hair–intellectual impairment–decreased fertility–short stature syndrome[1] This condition is inherited in an autosomal recessive manner.[1] Specialty Dermatology, medical [en.wikipedia.org]

• 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]

• Kinky Hair

  In some cases, trichorrhexis nodosa may be caused by an underlying disorder such as argininosuccinic aciduria, Menkes' kinky hair syndrome, Netherton's syndrome, hypothyroidism, argininosuccinic lyase deficiency or trichothiodystrophy. [diki.pl]

  […] growth, 85-90%, 2-6 years transition, 1-2%, 2-3 wks resting, club hair, 3 months, 10-15% hair twisted at 90 to 360 degrees Menke's Kinky Hair: XLR, ATP7A (Cu ATPase), Brittle hair, +/-trichoexis nodosa, monilethrix, cupid bow, lax skin, MR, seizures) [quizlet.com]

  Calderon, R, Gonzales-Cantu, N: Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation. J Pediatr 95: 1007 – 1008, 1979. Google Scholar 3. [journals.sagepub.com]

  Menkes disease Menkes disease, also known as Menkes kinky hair syndrome, is a congenital X-linked genetic disorder where copper deficiency causes peculiar ‘kinked' (sharply bent) hair, neurodegeneration, and connective tissue abnormalities. [dermnetnz.org]

• 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]

• Skin Lesion

  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]

  Diagnosis Treatment See also Skin lesion List of cutaneous conditions References External links NIH document on Tay syndrome Trichothiodystrophy Articles connexes Progeroid syndromes Xeroderma pigmentosum Transcription factor II H Progeria List of congenital [owlapps.net]

  Infants and children with Mulvihill-Smith syndrome also typically exhibit deeply-colored skin lesions like freckles or warts (pigmented nevi) on the skin of the face, neck, hands, trunk, and/or other parts of the body. [rarediseases.org]

  (February 2018) See also[edit] Skin lesion List of cutaneous conditions References[edit] ^ a b "Trichothiodystrophy". Genetics Home Reference. Retrieved 19 February 2018. ^ Lambert WC, Gagna CE, Lambert MW (2010). [en.wikipedia.org]

  Netherton syndrome Netherton syndrome is a rare autosomal-recessive condition of cornification (squamous epithelial cells hardening into hair and nails) characterised by a triad of inflammatory and scaly skin lesions, the characteristic hair-shaft abnormality [dermnetnz.org]

• 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]

• Confusion

  Tay syndrome should not be confused with the Tay-Sachs disease. [4] :485 [9] [10] [11] It is an autosomal recessive [12] congenital disease. [4] :501 [13] In some cases, it can be diagnosed prenatally. [14] IBIDS syndrome is nonphotosensitive. [ipfs.io]

  Tay syndrome should not be confused with the Tay-Sachs disease. It is an autosomal recessive congenital disease. In some cases, it can be diagnosed prenatally. IBIDS syndrome is nonphotosensitive. [dict.eudic.net]

  Tay syndrome should not be confused with the Tay–Sachs disease. It is an autosomal recessive congenital disease. In some cases, it can be diagnosed prenatally. IBIDS syndrome is nonphotosensitive. [owlapps.net]

  […] shape on transverse cross section with central linear groove along one side (seen on microscopy) - uncombable hair syndrome hair trapped in stratum corneum - appear as dark coiled ring; 2/2 to friction or KP small vellous hairs within hair follicle (confused [quizlet.com]

  [citation needed]) Tay syndrome should not be confused with the Tay–Sachs disease.[6]: 485 [10][11][12] It is an autosomal recessive[13] congenital disease.[6]: 501 [14] In some cases, it can be diagnosed prenatally.[15] IBIDS syndrome is nonphotosensitive [en.wikipedia.org]

• Nystagmus

  TTD patients are also prone to develop cataracts and other ocular abnormalities (nystagmus, strabismus, myopia, etc.) at an early age, with some manifesting at birth. [dermatologyadvisor.com]

  […] birth < 37 weeks' gestation, and low birth weight) Intellectual impairment or developmental delay (85% of cases) Short stature (73% of cases) Ocular abnormalities including congenital cataracts, strabismus (horizontal and vertical eye deviations), and nystagmus [dermnetnz.org]

  Cataracts, nystagmus, strabismus, photophobia, ectropion are among the ocular manifestations. [anaisdedermatologia.org.br]

  Ocular manifestations resulting from developmental impairment and extreme photosensitivity are well described in TTD and include cataract, nystagmus and microphthalmia.14 15 As our patients show a variant shared by patients with XP, their ophthalmological [ncbi.nlm.nih.gov]

  The most common findings in the newborn period are congenital cataracts and nystagmus (an eye finding where the eyes make repetitive, uncontrolled movements that can affect visual acuity and depth perception). [rarediseases.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]

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]