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Red hair

MedGen UID:
66796
Concept ID:
C0239803
Finding
Synonym: Red Hair
SNOMED CT: Red hair (297997007)
 
HPO: HP:0002297

Term Hierarchy

Conditions with this feature

Brittle cornea syndrome 1
MedGen UID:
78661
Concept ID:
C0268344
Disease or Syndrome
Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). Genetic Heterogeneity of Brittle Cornea Syndrome Brittle cornea syndrome-2 (BCS2; 614170) is caused by mutation in the PRDM5 gene (614161) on chromosome 4q27.
Tyrosinase-positive oculocutaneous albinism
MedGen UID:
82810
Concept ID:
C0268495
Disease or Syndrome
Tyrosinase-positive oculocutaneous albinism (OCA, type II; OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have OCA type I, or complete absence of melanin pigment, most patients with OCA type II acquire small amounts of pigment with age. Individuals with OCA type II have the characteristic visual anomalies associated with albinism, including decreased acuity and nystagmus, which are usually less severe than in OCA type I (Lee et al., 1994; King et al., 2001). OCA type II has a highly variable phenotype. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides. The hair and irides may turn darker with time and the skin may tan with sun exposure; the ocular features of albinism are present in all variants (King et al., 2001). In addition, previous reports of so-called 'autosomal recessive ocular albinism,' (see, e.g., Witkop et al., 1978 and O'Donnell et al., 1978) with little or no obvious skin involvement, are now considered most likely to be part of the phenotypic spectrum of OCA1 or OCA2 (Lee et al., 1994; King et al., 2001).
Oculocutaneous albinism type 3
MedGen UID:
87450
Concept ID:
C0342683
Disease or Syndrome
Several additional types of this disorder have been proposed, each affecting one or a few families.\n\nResearchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen with type 2.\n\nOculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).
Obesity due to pro-opiomelanocortin deficiency
MedGen UID:
341863
Concept ID:
C1857854
Disease or Syndrome
Early-onset obesity with adrenal insuficiency and red hair (OBAIRH) is an autosomal recessive endocrine disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism. In the neonatal period, affected individuals are prone to hypoglycemia, hyperbilirubinemia, and cholestasis that may result in death if not treated. The disorder results from mutation in the POMC gene, which encodes a preproprotein that is processed into a range of bioactive peptides, including alpha-melanocyte-stimulating hormone (MSH) and ACTH (summary by Kuhnen et al., 2016 and Clement et al., 2008).
Carney complex, type 1
MedGen UID:
388559
Concept ID:
C2607929
Disease or Syndrome
Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black lentigines are the most common presenting feature of CNC and typically increase in number at puberty. Cardiac myxomas occur at a young age, may occur in any or all cardiac chambers, and can manifest as intracardiac obstruction of blood flow, embolic phenomenon, and/or heart failure. Other sites for myxomas include the skin, breast, oropharynx, and female genital tract. Primary pigmented nodular adrenocortical disease (PPNAD), which causes Cushing syndrome, is the most frequently observed endocrine tumor in CNC, occurring in approximately 25% of affected individuals. Large-cell calcifying Sertoli cell tumors (LCCSCTs) are observed in one third of affected males within the first decade and in most adult males. Up to 75% of individuals with CNC have multiple thyroid nodules, most of which are nonfunctioning thyroid follicular adenomas. Clinically evident acromegaly from a growth hormone (GH)-producing adenoma is evident in approximately 10% of adults. Psammomatous melanotic schwannoma (PMS), a rare tumor of the nerve sheath, occurs in an estimated 10% of affected individuals. The median age of diagnosis is 20 years.
Acrodysostosis 2 with or without hormone resistance
MedGen UID:
766164
Concept ID:
C3553250
Disease or Syndrome
Acrodysostosis-2 (ACRDYS2) is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by Michot et al., 2012 and Lee et al., 2012). For a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 (101800).
Obesity and hypopigmentation
MedGen UID:
1824062
Concept ID:
C5774289
Disease or Syndrome
Obesity and hypopigmentation (OBHP) is characterized by early-onset severe obesity and hypopigmentation of the skin. Some affected individuals have red hair, and some experience increased appetite and exhibit reduced energy expenditure (Kempf et al., 2022).

Professional guidelines

PubMed

Rachmin I, Ostrowski SM, Weng QY, Fisher DE
Adv Drug Deliv Rev 2020 Jan 1;153:65-71. Epub 2020 Feb 21 doi: 10.1016/j.addr.2020.02.002. PMID: 32092380Free PMC Article
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Recent clinical studies

Etiology

Berns HM, Watkins-Chow DE, Lu S, Louphrasitthiphol P, Zhang T, Brown KM, Moura-Alves P, Goding CR, Pavan WJ
Pigment Cell Melanoma Res 2024 Mar;37(2):291-308. Epub 2023 Nov 16 doi: 10.1111/pcmr.13141. PMID: 37972124
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Newton-Bishop J, Bishop DT, Harland M
Acta Derm Venereol 2020 Jun 3;100(11):adv00138. doi: 10.2340/00015555-3493. PMID: 32346746Free PMC Article
Chen S, Zhu B, Yin C, Liu W, Han C, Chen B, Liu T, Li X, Chen X, Li C, Hu L, Zhou J, Xu ZX, Gao X, Wu X, Goding CR, Cui R
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Diagnosis

Newton-Bishop J, Bishop DT, Harland M
Acta Derm Venereol 2020 Jun 3;100(11):adv00138. doi: 10.2340/00015555-3493. PMID: 32346746Free PMC Article
Gong HZ, Zheng HY, Li J
Melanoma Res 2019 Jun;29(3):221-230. doi: 10.1097/CMR.0000000000000571. PMID: 30672881
Ransohoff KJ, Jaju PD, Tang JY, Carbone M, Leachman S, Sarin KY
J Am Acad Dermatol 2016 Mar;74(3):423-34; quiz 435-6. doi: 10.1016/j.jaad.2015.09.070. PMID: 26892652
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Therapy

Guida S, Guida G, Goding CR
J Invest Dermatol 2022 Feb;142(2):293-302.e1. Epub 2021 Aug 4 doi: 10.1016/j.jid.2021.06.018. PMID: 34362555
Newton-Bishop J, Bishop DT, Harland M
Acta Derm Venereol 2020 Jun 3;100(11):adv00138. doi: 10.2340/00015555-3493. PMID: 32346746Free PMC Article
Rachmin I, Ostrowski SM, Weng QY, Fisher DE
Adv Drug Deliv Rev 2020 Jan 1;153:65-71. Epub 2020 Feb 21 doi: 10.1016/j.addr.2020.02.002. PMID: 32092380Free PMC Article
Duffy DL, Lee KJ, Jagirdar K, Pflugfelder A, Stark MS, McMeniman EK, Soyer HP, Sturm RA
Br J Dermatol 2019 Nov;181(5):1009-1016. Epub 2019 Jul 17 doi: 10.1111/bjd.17833. PMID: 30820946
Abdel-Malek ZA, Swope VB, Starner RJ, Koikov L, Cassidy P, Leachman S
Arch Biochem Biophys 2014 Dec 1;563:4-12. Epub 2014 Jul 11 doi: 10.1016/j.abb.2014.07.002. PMID: 25017567

Prognosis

Pozzobon FC, Tell-Marti G, Calbet-Llopart N, Barreiro A, Espinosa N, Potrony M, Alejo B, Podlipnik S, Combalia M, Puig-Butillé JA, Carrera C, Malvehy J, Puig S
Pigment Cell Melanoma Res 2021 May;34(3):618-628. Epub 2021 Jan 31 doi: 10.1111/pcmr.12954. PMID: 33342058
Newton-Bishop J, Bishop DT, Harland M
Acta Derm Venereol 2020 Jun 3;100(11):adv00138. doi: 10.2340/00015555-3493. PMID: 32346746Free PMC Article
Gong HZ, Zheng HY, Li J
Melanoma Res 2019 Jun;29(3):221-230. doi: 10.1097/CMR.0000000000000571. PMID: 30672881
Ito S, Wakamatsu K
J Eur Acad Dermatol Venereol 2011 Dec;25(12):1369-80. doi: 10.1111/j.1468-3083.2011.04278.x. PMID: 22077870
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Clinical prediction guides

Aguilar-Velázquez JA, Llamas-de-Dios BJ, Córdova-Mercado MF, Coronado-Ávila CE, Salas-Salas O, López-Quintero A, Ramos-González B, Rangel-Villalobos H
Genes (Basel) 2023 May 22;14(5) doi: 10.3390/genes14051120. PMID: 37239480Free PMC Article
Kempf E, Landgraf K, Stein R, Hanschkow M, Hilbert A, Abou Jamra R, Boczki P, Herberth G, Kühnapfel A, Tseng YH, Stäubert C, Schöneberg T, Kühnen P, Rayner NW, Zeggini E, Kiess W, Blüher M, Körner A
Nat Metab 2022 Dec;4(12):1697-1712. Epub 2022 Dec 19 doi: 10.1038/s42255-022-00703-9. PMID: 36536132Free PMC Article
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Ito S, Wakamatsu K
J Eur Acad Dermatol Venereol 2011 Dec;25(12):1369-80. doi: 10.1111/j.1468-3083.2011.04278.x. PMID: 22077870
Schaffer JV
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Recent systematic reviews

Gregoric N, Groselj U, Bratina N, Debeljak M, Zerjav Tansek M, Suput Omladic J, Kovac J, Battelino T, Kotnik P, Avbelj Stefanija M
Front Endocrinol (Lausanne) 2021;12:689387. Epub 2021 Jun 9 doi: 10.3389/fendo.2021.689387. PMID: 34177811Free PMC Article
Rachmin I, Ostrowski SM, Weng QY, Fisher DE
Adv Drug Deliv Rev 2020 Jan 1;153:65-71. Epub 2020 Feb 21 doi: 10.1016/j.addr.2020.02.002. PMID: 32092380Free PMC Article
Williams PF, Olsen CM, Hayward NK, Whiteman DC
Int J Cancer 2011 Oct 1;129(7):1730-40. Epub 2011 Apr 1 doi: 10.1002/ijc.25804. PMID: 21128237
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Int J Cancer 2010 Nov 15;127(10):2430-45. doi: 10.1002/ijc.25243. PMID: 20143394

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