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Dry hair

MedGen UID:
75809
Concept ID:
C0277960
Finding
SNOMED CT: Dry hair (79395009)
 
HPO: HP:0011359

Definition

Hair that lacks the luster (shine or gleam) of normal hair. [from HPO]

Term Hierarchy

Conditions with this feature

Pili torti
MedGen UID:
82670
Concept ID:
C0263491
Finding
Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.
Pili torti-deafness syndrome
MedGen UID:
82728
Concept ID:
C0266006
Disease or Syndrome
Bjornstad syndrome (BJS) is an autosomal recessive disorder characterized by sensorineural hearing loss and pili torti. The hearing loss is congenital and of variable severity. Pili torti (twisted hairs), a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair very brittle, is usually recognized early in childhood (Selvaag, 2000).
Argininosuccinate lyase deficiency
MedGen UID:
78687
Concept ID:
C0268547
Disease or Syndrome
Deficiency of argininosuccinate lyase (ASL), the enzyme that cleaves argininosuccinic acid to produce arginine and fumarate in the fourth step of the urea cycle, may present as a severe neonatal-onset form or a late-onset form: The severe neonatal-onset form is characterized by hyperammonemia within the first few days after birth that can manifest as increasing lethargy, somnolence, refusal to feed, vomiting, tachypnea, and respiratory alkalosis. Absence of treatment leads to worsening lethargy, seizures, coma, and even death. In contrast, the manifestations of late-onset form range from episodic hyperammonemia triggered by acute infection or stress to cognitive impairment, behavioral abnormalities, and/or learning disabilities in the absence of any documented episodes of hyperammonemia. Manifestations of ASL deficiency that appear to be unrelated to the severity or duration of hyperammonemic episodes: Neurocognitive deficiencies (attention-deficit/hyperactivity disorder, developmental delay, seizures, and learning disability). Liver disease (hepatitis, cirrhosis). Trichorrhexis nodosa (coarse brittle hair that breaks easily). Systemic hypertension.
Cockayne syndrome type 2
MedGen UID:
155487
Concept ID:
C0751038
Disease or Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).
Cockayne syndrome type 1
MedGen UID:
155488
Concept ID:
C0751039
Disease or Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).
Odonto-onycho-dermal dysplasia
MedGen UID:
208666
Concept ID:
C0796093
Disease or Syndrome
Odontoonychodermal dysplasia (OODD) is an autosomal recessive disorder characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, hyperkeratosis of the palms and soles, hypo- and hyperhidrosis of the skin, and atrophic patches on the face (summary by Adaimy et al., 2007; Yu et al., 2019).
Sabinas brittle hair syndrome
MedGen UID:
163238
Concept ID:
C0796271
Disease or Syndrome
The principal features of Sabinas brittle hair syndrome, a form of nonphotosensitive trichothiodystrophy (TTDN; see 234050), include congenital hypotrichosis, mild to moderate onychodysplasia, varying mental retardation, and sterility. Ocular dysplasias are sometimes present and dentition is normal (Howell et al., 1980).
Oculodentodigital dysplasia
MedGen UID:
167236
Concept ID:
C0812437
Congenital Abnormality
Oculodentodigital dysplasia (ODDD) is characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding (summary by Judisch et al., 1979). Neurologic abnormalities are sometimes associated (Gutmann et al., 1991), and lymphedema has been reported in some patients with ODDD (Brice et al., 2013). See review by De Bock et al. (2013). Genetic Heterogeneity of Oculodentodigital Syndrome An autosomal recessive form of ODDD (257850) is also caused by mutation in the GJA1 gene, but the majority of cases are autosomal dominant.
Nicolaides-Baraitser syndrome
MedGen UID:
220983
Concept ID:
C1303073
Disease or Syndrome
Nicolaides-Baraitser syndrome (NCBRS) is characterized by sparse scalp hair, prominence of the inter-phalangeal joints and distal phalanges due to decreased subcutaneous fat, characteristic coarse facial features, microcephaly, seizures, and developmental delay / intellectual disability. Seizures are of various types and can be difficult to manage. Developmental delay / intellectual disability (ID) is severe in nearly a half, moderate in a third, and mild in the remainder. Nearly a third never develop speech or language skills.
Orofaciodigital syndrome I
MedGen UID:
307142
Concept ID:
C1510460
Disease or Syndrome
Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. OFD1 is characterized by the following features: Oral (lobulated tongue, tongue nodules, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities). Facial (widely spaced eyes or telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft upper lip, micrognathia). Digital (brachydactyly, syndactyly, clinodactyly of the fifth finger; duplicated hallux [great toe]). Kidney (polycystic kidney disease). Brain (e.g., intracerebral cysts, agenesis of the corpus callosum, cerebellar agenesis with or without Dandy-Walker malformation). Intellectual disability (in ~50% of individuals).
Pachyonychia congenita 2
MedGen UID:
314107
Concept ID:
C1721007
Disease or Syndrome
Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities.
Autosomal dominant wooly hair
MedGen UID:
348571
Concept ID:
C1860238
Finding
Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends. WH can appear as part of several syndromes, such as Naxos disease (601214) and cardiofaciocutaneous syndrome (115150) (summary by Petukhova et al., 2009). See 278150 for a discussion of genetic heterogeneity of autosomal recessive woolly hair.
Cleft lip/palate-ectodermal dysplasia syndrome
MedGen UID:
444067
Concept ID:
C2931488
Disease or Syndrome
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive.
Hypotrichosis 8
MedGen UID:
481100
Concept ID:
C3279470
Disease or Syndrome
Hypotrichosis simplex refers to a group of hereditary isolated alopecias characterized by diffuse and progressive hair loss, usually beginning in early childhood (Pasternack et al., 2008). Localized autosomal recessive hypotrichosis (LAH) is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas (summary by Schaffer et al., 2006). Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends (summary by Petukhova et al., 2009). Several families have been reported in which some affected individuals exhibit features of hypotrichosis and others have woolly scalp hair (Khan et al., 2011). Woolly hair is also a feature of several syndromes, such as Naxos disease (601214) and cardiofaciocutaneous syndrome (115150) (Petukhova et al., 2009), or the palmoplantar keratoderma and cardiomyopathy syndrome (601214) (Carvajal-Huerta, 1998). Genetic Heterogeneity of Hypotrichosis and Woolly Hair For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (605389). For a discussion of genetic heterogeneity of localized hypotrichosis, see LAH1 (HYPT6; 607903). Another form of autosomal recessive woolly hair with or without hypotrichosis (ARWH2; 604379) is caused by mutation in the LIPH gene (607365) and is allelic to autosomal recessive localized hypotrichosis (LAH2). ARWH3 (616760) is caused by mutation in the KRT25 gene (616646) on chromosome 17q21. An autosomal dominant form of woolly hair with hypotrichosis (HYPT13; 615896) is caused by mutation in the KRT71 gene (608245) on chromosome 12q13. Another autosomal dominant form of woolly hair (ADWH; 194300) with normal hair density is caused by mutation in the KRT74 gene (608248) on chromosome 12q13, and is allelic to an autosomal dominant form of hypotrichosis simplex of the scalp (HYPT3; 613981) as well as an ectodermal dysplasia of the hair/nail type (ECTD7; 614929).
Coffin-Siris syndrome 1
MedGen UID:
482831
Concept ID:
C3281201
Disease or Syndrome
Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment.
Hypotrichosis 12
MedGen UID:
863000
Concept ID:
C4014563
Disease or Syndrome
Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.
Uncombable hair syndrome 1
MedGen UID:
1640179
Concept ID:
C4551573
Disease or Syndrome
Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by U. Basmanav et al., 2016). Genetic Heterogeneity of Uncombable Hair Syndrome See UHS2 (617251), caused by mutation in the TGM3 gene (600238) on chromosome 20p12, and UHS3 (617252), caused by mutation in the TCHH gene (190370) on chromosome 1q21.
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
MedGen UID:
1684871
Concept ID:
C5231413
Disease or Syndrome
Liver disease, severe congenital
MedGen UID:
1823968
Concept ID:
C5774195
Disease or Syndrome
Severe congenital liver disease (SCOLIV) is an autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Affected individuals show feeding difficulties with failure to thrive and features such as jaundice, hepatomegaly, and abdominal distension. Laboratory workup is consistent with hepatic insufficiency and may also show coagulation defects, anemia, or metabolic disturbances. Cirrhosis and hypernodularity are commonly observed on liver biopsy. Many patients die of liver failure in early childhood (Moreno Traspas et al., 2022).
Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
MedGen UID:
1847702
Concept ID:
C5882696
Disease or Syndrome
Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities (ARCME) is characterized by severe dilated cardiomyopathy resulting in death or cardiac transplantation in childhood. Ventricular tachycardia, sustained or nonsustained, has been reported. In addition, some patients exhibit ectodermal manifestations including woolly or wiry hair, dental anomalies, dry skin, and/or dystrophic nails. Cleft lip and palate and corneal abnormalities have also been observed (Robinson et al., 2020; Henry et al., 2022).

Professional guidelines

PubMed

Brand RM, Charron AR, Brand RE
Int J Pharm 2005 Sep 14;301(1-2):48-53. doi: 10.1016/j.ijpharm.2005.05.023. PMID: 16023809

Recent clinical studies

Etiology

Heibloem RE, Komen MMC, Ilozumba OUC, van den Hurk CJG
Support Care Cancer 2023 Apr 17;31(5):273. doi: 10.1007/s00520-023-07687-6. PMID: 37067605
Horlenko O, Lenchenko A, Kossey G, Tomey A, Debretseni O
Georgian Med News 2018 Dec;(285):47-51. PMID: 30702069
Panahi Y, Taghizadeh M, Marzony ET, Sahebkar A
Skinmed 2015 Jan-Feb;13(1):15-21. PMID: 25842469
Pariser DM, Meinking TL, Bell M, Ryan WG
N Engl J Med 2012 Nov 1;367(18):1687-93. doi: 10.1056/NEJMoa1200107. PMID: 23113480
Bertazzo A, Biasiolo M, Costa CV, Cardin de Stefani E, Allegri G
Farmaco 2000 Aug;55(8):521-5. doi: 10.1016/s0014-827x(00)00038-0. PMID: 11132729

Diagnosis

Horlenko O, Lenchenko A, Kossey G, Tomey A, Debretseni O
Georgian Med News 2018 Dec;(285):47-51. PMID: 30702069
Hodes A, Lodish MB, Tirosh A, Meyer J, Belyavskaya E, Lyssikatos C, Rosenberg K, Demidowich A, Swan J, Jonas N, Stratakis CA, Zilbermint M
Endocrine 2017 Apr;56(1):164-174. Epub 2017 Feb 13 doi: 10.1007/s12020-017-1231-7. PMID: 28194652Free PMC Article
Martín J, Möder M, Gaudl A, Alonso E, Reemtsma T
Anal Bioanal Chem 2015 Nov;407(29):8725-34. Epub 2015 Oct 1 doi: 10.1007/s00216-015-9026-2. PMID: 26427497
Kristensen M, Knorr M, Rasmussen AM, Jespersen JB
J Med Entomol 2006 May;43(3):533-8. doi: 10.1603/0022-2585(2006)43[533:sopamr]2.0.co;2. PMID: 16739412
Marino RJ, Goin JE
Spinal Cord 1999 Apr;37(4):289-96. doi: 10.1038/sj.sc.3100772. PMID: 10338351

Therapy

Heibloem RE, Komen MMC, Ilozumba OUC, van den Hurk CJG
Support Care Cancer 2023 Apr 17;31(5):273. doi: 10.1007/s00520-023-07687-6. PMID: 37067605
Horlenko O, Lenchenko A, Kossey G, Tomey A, Debretseni O
Georgian Med News 2018 Dec;(285):47-51. PMID: 30702069
Panahi Y, Taghizadeh M, Marzony ET, Sahebkar A
Skinmed 2015 Jan-Feb;13(1):15-21. PMID: 25842469
Pariser DM, Meinking TL, Bell M, Ryan WG
N Engl J Med 2012 Nov 1;367(18):1687-93. doi: 10.1056/NEJMoa1200107. PMID: 23113480
Christian P, Winsey N, Whatmough M, Cornwell PA
J Cosmet Sci 2011 Jan-Feb;62(1):15-27. PMID: 21443842

Prognosis

Bowles VM, VanLuvanee LJ, Alsop H, Hazan L, Shepherd K, Sidgiddi S, Allenby K, Ahveninen T, Hanegraaf S
Pediatr Dermatol 2018 Sep;35(5):616-621. Epub 2018 Jul 12 doi: 10.1111/pde.13612. PMID: 29999197Free PMC Article
Ott J, Promberger R, Kober F, Neuhold N, Tea M, Huber JC, Hermann M
Thyroid 2011 Feb;21(2):161-7. Epub 2010 Dec 27 doi: 10.1089/thy.2010.0191. PMID: 21186954
Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, Belguith H, de Mazancourt P, Megarbane A
Am J Hum Genet 2007 Oct;81(4):821-8. Epub 2007 Aug 9 doi: 10.1086/520064. PMID: 17847007Free PMC Article
Marino RJ, Goin JE
Spinal Cord 1999 Apr;37(4):289-96. doi: 10.1038/sj.sc.3100772. PMID: 10338351

Clinical prediction guides

Heibloem RE, Komen MMC, Ilozumba OUC, van den Hurk CJG
Support Care Cancer 2023 Apr 17;31(5):273. doi: 10.1007/s00520-023-07687-6. PMID: 37067605
Panahi Y, Taghizadeh M, Marzony ET, Sahebkar A
Skinmed 2015 Jan-Feb;13(1):15-21. PMID: 25842469
Zhang S, Shui G, Wang G, Wang C, Sun S, Zouboulis CC, Xiao R, Ye J, Li W, Li P
Mol Cell Biol 2014 May;34(10):1827-38. Epub 2014 Mar 17 doi: 10.1128/MCB.01723-13. PMID: 24636991Free PMC Article
Sinn N
Prostaglandins Leukot Essent Fatty Acids 2007 Aug;77(2):109-15. Epub 2007 Sep 6 doi: 10.1016/j.plefa.2007.08.002. PMID: 17825546
Bertazzo A, Biasiolo M, Costa CV, Cardin de Stefani E, Allegri G
Farmaco 2000 Aug;55(8):521-5. doi: 10.1016/s0014-827x(00)00038-0. PMID: 11132729

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