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Generalized hypopigmentation

MedGen UID:
340426
Concept ID:
C1849923
Finding
Synonym: Pale pigmentation
 
HPO: HP:0007513

Conditions with this feature

Phenylketonuria
MedGen UID:
19244
Concept ID:
C0031485
Disease or Syndrome
Phenylalanine hydroxylase (PAH) deficiency results in intolerance to the dietary intake of the essential amino acid phenylalanine and produces a spectrum of disorders. The risk of adverse outcome varies based on the degree of PAH deficiency. Without effective therapy, most individuals with severe PAH deficiency, known as classic PKU, develop profound and irreversible intellectual disability. Affected individuals on an unrestricted diet who have phenylalanine levels above normal but below 1,200 µmol/L (20 mg/dL) are at much lower risk for impaired cognitive development in the absence of treatment.
Prader-Willi syndrome
MedGen UID:
46057
Concept ID:
C0032897
Disease or Syndrome
Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity (unless eating is externally controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. A distinctive behavioral phenotype (with temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common (if not treated with growth hormone); characteristic facial features, strabismus, and scoliosis are often present.
Tietz syndrome
MedGen UID:
98213
Concept ID:
C0391816
Disease or Syndrome
Tietz albinism-deafness syndrome (TADS) is characterized by generalized pigment loss and congenital complete sensorineural hearing loss (summary by Izumi et al., 2008).
Hermansky-Pudlak syndrome 2
MedGen UID:
374912
Concept ID:
C1842362
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
MedGen UID:
343663
Concept ID:
C1851841
Disease or Syndrome
An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
MedGen UID:
347666
Concept ID:
C1858562
Disease or Syndrome
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.
Oculocutaneous albinism type 6
MedGen UID:
811705
Concept ID:
C3805375
Disease or Syndrome
Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive disorder, with a worldwide prevalence of approximately 1:17,000. It manifests as a reduction or complete loss of melanin in the skin, hair, and eyes, often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus (summary by Wei et al., 2013). For a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 (203100). For a general phenotypic description and a discussion of genetic heterogeneity of variation in skin, hair, and eye pigmentation, see SHEP1 (227220).
Hermansky-Pudlak syndrome 8
MedGen UID:
854728
Concept ID:
C3888026
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
MedGen UID:
934592
Concept ID:
C4310625
Disease or Syndrome
Trichohepatoenteric syndrome 1
MedGen UID:
1644087
Concept ID:
C4551982
Disease or Syndrome
Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Additional findings include poorly characterized immunodeficiency, recurrent infections, skin abnormalities, and liver disease. Mild intellectual disability (ID) is seen in about 50% of affected individuals. Less common findings include congenital heart defects and platelet anomalies. To date 52 affected individuals have been reported.
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
MedGen UID:
1784590
Concept ID:
C5543375
Disease or Syndrome
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF) is characterized by microcephaly, congenital alopecia, distinctive craniofacial features, severe congenital sensorineural hearing loss, global developmental delay, hydrocephalus, hypoplastic kidneys with renal insufficiency, genital hypoplasia, and early mortality (Ito et al., 2018).

Professional guidelines

PubMed

Thawabteh AM, Jibreen A, Karaman D, Thawabteh A, Karaman R
Molecules 2023 Jun 18;28(12) doi: 10.3390/molecules28124839. PMID: 37375394Free PMC Article
Marçon CR, Maia M
An Bras Dermatol 2019 Sep-Oct;94(5):503-520. Epub 2019 Sep 30 doi: 10.1016/j.abd.2019.09.023. PMID: 31777350Free PMC Article
Plensdorf S, Livieratos M, Dada N
Am Fam Physician 2017 Dec 15;96(12):797-804. PMID: 29431372

Recent clinical studies

Etiology

Deshmukh C, Saikia T, Bakshi A, Amare-Kadam P, Baisane C, Parikh P
J Assoc Physicians India 2005 Apr;53:291-5. PMID: 15987013
Rundshagen U, Zühlke C, Opitz S, Schwinger E, Käsmann-Kellner B
Hum Mutat 2004 Feb;23(2):106-110. doi: 10.1002/humu.10311. PMID: 14722913
Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH
Am J Hum Genet 2001 Nov;69(5):981-8. Epub 2001 Sep 26 doi: 10.1086/324340. PMID: 11574907Free PMC Article

Diagnosis

Elhawary NA, AlJahdali IA, Abumansour IS, Elhawary EN, Gaboon N, Dandini M, Madkhali A, Alosaimi W, Alzahrani A, Aljohani F, Melibary EM, Kensara OA
Hum Genomics 2022 Jul 19;16(1):22. doi: 10.1186/s40246-022-00398-9. PMID: 35854334Free PMC Article
Chiang PH, Ng CY, Kuo TT, Hui RC, Chen CB, Lu CW, Chung WH
J Dermatol 2021 Jan;48(1):92-95. Epub 2020 Nov 12 doi: 10.1111/1346-8138.15562. PMID: 33180345
Edmondson LA, Smith LV, Mallik A
J Oncol Pharm Pract 2017 Dec;23(8):629-634. Epub 2016 Sep 8 doi: 10.1177/1078155216667636. PMID: 27609337
Mohammadzadeh Shanehsaz S, Rezazadeh A, Dandashli A
Dermatol Online J 2015 Feb 22;21(3) PMID: 25780981
Afifi HH, Zaki MS, El-Kamah GY, El-Darouti M
Genet Couns 2007;18(2):179-88. PMID: 17710870

Therapy

Elhawary NA, AlJahdali IA, Abumansour IS, Elhawary EN, Gaboon N, Dandini M, Madkhali A, Alosaimi W, Alzahrani A, Aljohani F, Melibary EM, Kensara OA
Hum Genomics 2022 Jul 19;16(1):22. doi: 10.1186/s40246-022-00398-9. PMID: 35854334Free PMC Article
Kok WL, Chen Q, Lee SSJ, Chua SH, Ng SK
J Dermatolog Treat 2017 Dec;28(8):762-763. Epub 2017 May 16 doi: 10.1080/09546634.2017.1328099. PMID: 28481685
Edmondson LA, Smith LV, Mallik A
J Oncol Pharm Pract 2017 Dec;23(8):629-634. Epub 2016 Sep 8 doi: 10.1177/1078155216667636. PMID: 27609337
Deshmukh C, Saikia T, Bakshi A, Amare-Kadam P, Baisane C, Parikh P
J Assoc Physicians India 2005 Apr;53:291-5. PMID: 15987013

Prognosis

Galve J, Martín-Santiago A, Clavero C, Saus C, Alfaro-Arenas R, Pérez-Granero A, Balliu PR, Ferrando J
Cutis 2016 Jun;97(6):E1-5. PMID: 27416089
Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH
Am J Hum Genet 2001 Nov;69(5):981-8. Epub 2001 Sep 26 doi: 10.1086/324340. PMID: 11574907Free PMC Article

Clinical prediction guides

Yamamoto K, Okamura K, Wakamatsu K, Ito S, Akabane K, Arai Y, Kawaguchi J, Hozumi Y, Suzuki T
Pigment Cell Melanoma Res 2024 Jul;37(4):430-437. Epub 2024 Mar 4 doi: 10.1111/pcmr.13166. PMID: 38439523
Mohammadzadeh Shanehsaz S, Rezazadeh A, Dandashli A
Dermatol Online J 2015 Feb 22;21(3) PMID: 25780981
Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH
Am J Hum Genet 2001 Nov;69(5):981-8. Epub 2001 Sep 26 doi: 10.1086/324340. PMID: 11574907Free PMC Article

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