[…] disease BIDS syndrome ORPHA:1245 Synonym(s): Amish brittle hair syndrome Trichothiodystrophy type D Prevalence: - Inheritance: - Age of onset: - ICD-10: - OMIM: 234050 UMLS: C3495483 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

Veteran: Richard is one of Australia's most recognisable TV presenters. Pictured at the Sydney premiere of Baywatch in May 2017 [dailymail.co.uk]

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]

• 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]

• Sparse Hair

  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]

  Clinical aspects Brittle hair affects all TTD patients, which in the majority of cases is due to markedly reduced cystine content resulting in a lack of sulfur-rich matrix proteins. Almost half of the patients also have sparse hair and alopecia. [accessanesthesiology.mhmedical.com]

  Most patients with TTD have brittle, sparse, dry, and easily broken scalp hair that is deficient in sulfur and cysteine content. [dermatologyadvisor.com]

• Sparse Hair

  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]

  Clinical aspects Brittle hair affects all TTD patients, which in the majority of cases is due to markedly reduced cystine content resulting in a lack of sulfur-rich matrix proteins. Almost half of the patients also have sparse hair and alopecia. [accessanesthesiology.mhmedical.com]

  Most patients with TTD have brittle, sparse, dry, and easily broken scalp hair that is deficient in sulfur and cysteine content. [dermatologyadvisor.com]

• Koilonychia

  Skin lesion List of cutaneous conditions References External links NIH document on Tay syndrome v t e Congenital malformations and deformations of skin appendages (Q84, 757.4–757.5) Nail disease Anonychia Leukonychia Pachyonychia congenita/Onychauxis Koilonychia [self.gutenberg.org]

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

• Psychomotor Retardation

  At a glance Inherited syndrome with mild psychomotor retardation, hypogonadism, short stature, and brittle hair. [accessanesthesiology.mhmedical.com]

  The majority of TTD patients have some neurological abnormalities, ranging from developmental delay, intellectual impairment, and microcephaly to impaired motor control or psychomotor retardation. [dermatologyadvisor.com]

See Workup for more detail. [emedicine.medscape.com]

Treatment: There is no treatment known to prevent or delay the symptoms. Prognosis: There is no evidence of reduced lifespan. Ancillary treatments and support: No special treatment is required. Specialists and specialty centers: Pediatrician. [wohproject.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]

Hair Scalp Hair Autosomal Dominant Phenotypes Pathogenesis and Clinical Picture Diseasesof the Skin and its Appendages Lethal Mutations Surviving by Mosaicism References Clinical Aspects Chapter 15Structural Anomalies of the Hair Shaft 6Diagnosis and Treatment [books.google.de]

The funds raised at this event will enable the Trust to fund a new research project into Lowe in the hope of better treatments and eventually a cure of the disease. [lowetrust.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Prognosis: There is no evidence of reduced lifespan. Ancillary treatments and support: No special treatment is required. Specialists and specialty centers: Pediatrician. [wohproject.org]

Prognosis - Bd syndrome Not supplied. Treatment - Bd syndrome Not supplied. [checkorphan.org]

Prognosis The natural history of Budd-Chiari syndrome is not well known. [emedicine.medscape.com]

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

In fact, according to the prognosis doctors gave him at birth, he shouldn't be alive at all. Jake Dering's story is one of defying the odds — again, and again, and again. [pamplinmedia.com]

Picture Diseasesof the Skin and its Appendages Lethal Mutations Surviving by Mosaicism References Clinical Aspects Chapter 15Structural Anomalies of the Hair Shaft 6Diagnosis and Treatment Anomalies Without Increased Hair Fragility References Monilethrix Etiology [books.google.de]

Calificadores Permitidos Inglés: 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]

Budd-Chiari syndrome: etiology, pathogenesis and diagnosis. World J Gastroenterol. 2007 May 21. 13(19):2693-6. [Medline]. Darwish Murad S, Plessier A, Hernandez-Guerra M, et al. Etiology, management, and outcome of the Budd-Chiari syndrome. [emedicine.medscape.com]

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]

Histórica Inglés: 2008 Calificadores Permitidos Inglés: 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]

Temperament profiles and somatization—an epidemiological study of young adult people. Journal of Psychosomatic Research, Vol. 61, Issue. 6, p. 841. CrossRef Google Scholar [cambridge.org]

The epidemiology of Budd-Chiari syndrome in France. Dig Liver Dis. 2018 Sep. 50 (9):931-7. [Medline]. Su L, Hu L, Liang P, Wu Y, Sun Q, Gao J. [emedicine.medscape.com]

In 1-2% of Down syndrome patients, mosaicism is present due to an error in cell division in the early embryonic stage, and these patients may have a less severe phenotype. [2] Epidemiology Down syndrome is the most common chromosomal abnormality. [3] [eyewiki.aao.org]

Chapter 15Structural Anomalies of the Hair Shaft 6Diagnosis and Treatment Anomalies Without Increased Hair Fragility References Monilethrix Etiology and Pathogenesis Hypomelanotic Hair Disorders 2Modelsfor Cultivating Follicular Keratinocytes In Vitro Pathophysiological [books.google.de]

Pathophysiology Occlusion of a single hepatic vein is usually silent. [emedicine.medscape.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]

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]

Treatment: There is no treatment known to prevent or delay the symptoms. Prognosis: There is no evidence of reduced lifespan. Ancillary treatments and support: No special treatment is required. Specialists and specialty centers: Pediatrician. [wohproject.org]

Prevention - Bd syndrome Not supplied. Diagnosis - Bd syndrome Not supplied. Prognosis - Bd syndrome Not supplied. Treatment - Bd syndrome Not supplied. [checkorphan.org]