• Sabinas brittle hair syndrome, also called Sabinas syndrome or brittle hair-mental deficit syndrome, is an autosomal recessive congenital disorder affecting the integumentary system. (wikipedia.org)
  • Trichothiodystrophy or TTD is a heterogeneous group of autosomal recessive disorders, characterized by abnormally sulfur deficient brittle hair and accompanied by ichthyosis and other manifestations. (wikipedia.org)
  • Because the disease appears to be inherited in an autosomal recessive pattern, detection of low-sulfur brittle hair syndrome is also important for genetic counseling. (wikipedia.org)
  • Sabinas brittle hair syndrome is inherited as an autosomal recessive genetic trait. (wikipedia.org)
  • Trichothiodystrophy 1 (TTD1) is a rare, autosomal recessive, multisystem disorder characterized by the sulfur-deficient brittle hair, cutaneous photosensitivity, high risk of skin cancer, psychomotor retardation. (bvsalud.org)
  • also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. (nih.gov)
  • Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrition (PN). (biomedcentral.com)
  • Syndromic diarrhea - Phenotypic diarrhea - Tricho-hepato-enteric syndrome - Intractable diarrhea of infancy with facial dysmorphism - Trichorrhexis nodosa and cirrhosis - Neonatal hemochromatosis phenotype with intractable diarrhea and hair abnormalities - Intractable infant diarrhea associated with phenotypic abnormalities and immune deficiency. (biomedcentral.com)
  • Syndromic diarrhea (SD), also known as Phenotypic diarrhea (PD) or Tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset severe intractable diarrhea in infants born Small for Gestational Age (SGA) and associated with non-specific villous atrophy with low or no mononuclear cell infiltration of the lamina propria nor specific histological abnormalities involving the epithelium. (biomedcentral.com)
  • This report adds to the literature by expanding the genetic and phenotypic spectra of MPLKIP-related trichothiodystrophy. (bvsalud.org)
  • Close examination demonstrated the scalp hairs were very brittle, coarse, wiry in texture, and broke off quite easily with mechanical trauma such as combing and brushing. (wikipedia.org)
  • In spite of such difficulties, a correct diagnosis is important for genetic counseling, treatment decisions, follow-up and long-term outcome forecast [Ma¨kitie, 2011]. (docksci.com)
  • The well-known clinical-based classification of ectodermal dysplasias (EDs) proposed by Freire-Maia [1971, 1977] lies on the occurrence of alterations in hair, teeth, nails, and sweat glands, whose frequencies are 87.1%, 78.5%, 73%, and 37.4%, respectively. (docksci.com)
  • The key finding is brittle hair with low sulfur content, but alternating dark and light bands under polarizing microscopy, trichoschisis, and absent or defective cuticle are additional important clues for the diagnosis of trichothiodystrophy. (wikipedia.org)
  • A teenage girl had the rare combined phenotype of xeroderma pigmentosum and trichothiodystrophy, resulting from mutations in the XPD (ERCC2) gene involved in nucleotide excision repair (NER). (bvsalud.org)
  • Their enormous clinical variability and their etiological heterogeneity may result in difficulties for the establishment of a syndromic diagnosis. (docksci.com)
  • The enormous clinical variability and the etiological heterogenities, associated with complicating factors such as incomplete penetrance and variable expressivity, may result in difficulties for the establishment of a syndromic diagnosis. (docksci.com)
  • Trichothiodystrophy represents a central pathologic feature of a specific hair dysplasia associated with several disorders in organs derived from ectoderm and neuroectoderm. (wikipedia.org)
  • It is well recognized that patients with Cockayne syndrome, another NER disorder, are at high risk of metronidazole-induced hepatotoxicity, but this had not been reported in individuals with other NER disorders. (bvsalud.org)
  • Trichothiodystrophy is a group of multisystem neuroectodermal disorders with dysplastic hair as the cardinal symptom. (bvsalud.org)
  • Patients with trichothiodystrophy should have a thorough evaluation for other associated manifestations, including investigation of photosensitivity and DNA repair defects. (wikipedia.org)
  • This disease actually in simple words is called TTD which stands for Trichothiodystrophy . (healthhavoc.com)
  • Now we completely define it in such words that it is an autosomal inherited disease in which hairs are produced are sulfur deficient. (healthhavoc.com)
  • We would urge extreme caution in the use of metronidazole in the management of individuals with the xeroderma pigmentosum and trichothiodystrophy overlap or trichothiodystrophy phenotypes. (bvsalud.org)
  • Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. (nih.gov)
  • The principal biochemical features of the illness are reduced hair cystine levels, increased copper/zinc ratio, and presence of arginosuccinic acid in the blood and urine. (wikipedia.org)
  • Amino acid analyses of control hair when compared with those of patients with the Sabinas syndrome showed very striking differences with regard to content of sulphur amino acids. (wikipedia.org)
  • Prognosis of this syndrome is poor, but most patients now survive, and about half of the patients may be weaned from PN at adolescence, but experience failure to thrive and final short stature. (biomedcentral.com)
  • No exact information regarding Trichothiodystrophy epidemiology is present. (healthhavoc.com)
  • Some hairs could be visualized in their follicles, which were broken off at the skin line. (wikipedia.org)
  • Microscopic analysis of the hair show twisted hair (pili torti), aniso- and poilkilotrichosis, and trichorrhexis nodosa. (biomedcentral.com)
  • 3. Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. (nih.gov)
  • Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene. (nih.gov)
  • 2. Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene. (nih.gov)
  • 7. Solving the Riddle of Developmental Delay with Hair Microscopy: Trichothiodystrophy (MPLKIP Mutation in an Indian Child). (nih.gov)
  • 2000). The clinical features of the Ellis-van Creveld syndrome appear to be identical regardless of whether the disorder is caused by mutation in the EVC gene (604831) or in the EVC2 gene (607261) (Ruiz-Perez et al. (nih.gov)
  • Trichothiodystrophy or TTD is a heterogeneous group of autosomal recessive disorders, characterized by abnormally sulfur deficient brittle hair and accompanied by ichthyosis and other manifestations. (wikipedia.org)
  • 9. The Tay syndrome (congenital ichthyosis with trichothiodystrophy). (nih.gov)
  • Babies with ichthyosis-prematurity syndrome (IPS) are born prematurely between 29 and 35 weeks' gestation. (nih.gov)
  • Sabinas brittle hair syndrome, also called Sabinas syndrome or brittle hair-mental deficit syndrome, is an autosomal recessive congenital disorder affecting the integumentary system. (wikipedia.org)
  • This autosomal dominant syndrome is associated with iris pigmentation disturbances and severe, congenital bilateral cochlear deafness. (medscape.com)
  • Isolated congenital alopecia can occur with and without other defects of the skin, hair, and nails. (medscape.com)
  • In infants with phenylketonuria (PKU), excessive circulating phenylalanine inhibits the binding of tyrosine to tyrosinase and inhibits hair pigmentation. (medscape.com)
  • 1. A Japanese trichothiodystrophy patient with XPD mutations. (nih.gov)
  • 5. Establishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing compound heterozygous missense mutations in the ERCC2 gene. (nih.gov)
  • These syndromes arise from mutations of genes critical for nucleotide-excision repair and RNA transcription. (medscape.com)
  • Chediak-Higashi syndrome is a lethal autosomal recessive disorder characterized by silvery sheen hair. (medscape.com)
  • Miller syndrome, or postaxial acrofacial dysostosis, is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples (summary by Ng et al. (beds.ac.uk)
  • Individuals who are affected with Cockayne syndrome I typically have progressive neurologic degeneration with death occurring by the second or third decade of life, whereas patients with Cockayne syndrome II typically die by age 6-7 years. (medscape.com)
  • Furthermore, the main neuropathology of xeroderma pigmentosa is a primary neuronal degeneration, while in Cockayne syndrome and trichothiodystrophy, myelination of the brain is reduced, suggesting that the neurological abnormalities may be caused by both developmental defects and faulty DNA repair of neuronal cells damaged by oxidative stress. (medscape.com)
  • Lymphedema-distichiasis syndrome (referred to as LDS in this GeneReview) is characterized by lower-limb lymphedema, and distichiasis (aberrant eyelashes ranging from a full set of extra eyelashes to a single hair). (beds.ac.uk)
  • Symptoms include brittle hair, mild mental retardation and nail dysplasia. (wikipedia.org)
  • Cockayne syndrome, xeroderma pigmentosa, and trichothiodystrophy are 3 distinct syndromes with cellular sensitivity to ultraviolet (UV) irradiation. (medscape.com)
  • Cockayne syndrome is not associated with skin cancer, despite the photosensitivity and DNA repair defect, unlike xeroderma pigmentosa. (medscape.com)
  • Progressive sensorineural deafness is an early feature of both Cockayne syndrome and xeroderma pigmentosa, but not trichothiodystrophy. (medscape.com)
  • Review of literature reveals extensive associated findings in trichothiodystrophy. (wikipedia.org)
  • Although a wide variety of normal hair pigmentation exists, a number of specific findings may warrant further investigation. (medscape.com)
  • Cockayne syndrome II, or severe Cockayne syndrome, presents at birth with accelerated facial and somatic features. (medscape.com)
  • Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. (nih.gov)
  • GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. (nih.gov)
  • Because the disease appears to be inherited in an autosomal recessive pattern, detection of low-sulfur brittle hair syndrome is also important for genetic counseling. (wikipedia.org)
  • Sabinas brittle hair syndrome is inherited as an autosomal recessive genetic trait. (wikipedia.org)
  • 18. New clinico-genetic classification of trichothiodystrophy. (nih.gov)
  • Review the differential diagnosis of ARCI with a focus on genetic conditions. (nih.gov)
  • A genetic counselor should educate the parents of the Cockayne syndrome patient. (medscape.com)
  • In Cockayne syndrome II, the defective CS group B protein, an SNF2-family DNA-dependent ATPase, is implicated in transcription elongation, transcription coupled repair, and DNA base excision repair. (medscape.com)
  • Some hairs could be visualized in their follicles, which were broken off at the skin line. (wikipedia.org)
  • Hypotrichosis may represent a total absence of hair follicles or it may be associated with a scattered, sparse hair pattern and a decreased number of small follicles that can be seen on biopsy. (medscape.com)
  • The examiner should be alert for areas of hypopigmentation as well as abnormal hair quality, texture, patterning, or distribution. (medscape.com)
  • Both alopecia and hypotrichosis can be important, albeit subtle, features in many syndromes. (medscape.com)
  • Patients with Cockayne syndrome I have progressive, unremitting, neurologic deterioration usually leading to death by the second or third decade of life. (medscape.com)
  • Patients with Cockayne syndrome II typically have a worse prognosis, with death occurring earlier, typically by age 6 or 7 years. (medscape.com)
  • Typically, diffuse alopecia describes hair growth that is initially present but is later lost. (medscape.com)
  • 10. Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias. (nih.gov)
  • In a review of Meckel syndrome, Logan et al. (nih.gov)
  • Light-colored hair can also indicate a nutritional deficiency or an inborn error of metabolism. (medscape.com)
  • Hypotrichosis is sometimes differentiated from alopecia as an abnormal deficiency of hair due to insufficient hair growth. (medscape.com)
  • Cockayne syndrome group A or B (CSA or CSB) genes are required for transcription-coupled repair, a subpathway of nucleotide-excision repair. (medscape.com)
  • Albinism, an autosomal recessive trait, is a condition characterized by generalized hypopigmentation of the eyes, skin, and hair. (medscape.com)
  • Classic features include snow-white hair, pink eyes, and diffuse skin hypopigmentation. (medscape.com)
  • The principal biochemical features of the illness are reduced hair cystine levels, increased copper/zinc ratio, and presence of arginosuccinic acid in the blood and urine. (wikipedia.org)
  • Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. (nih.gov)
  • Cockayne syndrome[1] is a rare autosomal recessive (see diagram below), heterogeneous, multisystem disorder characterized by dwarfism, progressive pigmentary retinopathy, birdlike facies, and photosensitivity. (medscape.com)
  • 6. Apparent fragility of African hair is unrelated to the cystine-rich protein distribution: a cytochemical electron microscopic study. (nih.gov)