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Hypopigmented streaks

MedGen UID:
356483
Concept ID:
C1866244
Finding
HPO: HP:0007535

Conditions with this feature

Pallister-Killian syndrome
MedGen UID:
120540
Concept ID:
C0265449
Disease or Syndrome
Pallister-Killian syndrome (PKS) is a dysmorphic condition involving most organ systems, but is also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10) (Peltomaki et al., 1987; Warburton et al., 1987).

Professional guidelines

PubMed

Zou X, Li H, Yang L, Sun Z, Yuan Z, Li H, Sui R
Sci Rep 2017 Feb 17;7:33713. doi: 10.1038/srep33713. PMID: 28211458Free PMC Article

Recent clinical studies

Etiology

Mansour AM, Ansari NH, Shields JA, Annesley WH Jr, Cronin CM, Stock EL
Ophthalmologica 1993;207(2):57-61. doi: 10.1159/000310407. PMID: 8272342
Zillikens D, Mehringer A, Lechner W, Burg G
Am J Dermatopathol 1991 Feb;13(1):57-62. doi: 10.1097/00000372-199102000-00010. PMID: 2003648

Diagnosis

J Paediatr Child Health 2019 Sep;55(9):1146-1147. doi: 10.1111/jpc.2_14548. PMID: 31524970
Venning VL, Rajagopalan S, Sebaratnam DF
J Paediatr Child Health 2019 Sep;55(9):1145-1146. doi: 10.1111/jpc.1_14548. PMID: 31524969
Tan C, Xue YN, Min ZS
J Dtsch Dermatol Ges 2018 Feb;16(2):222-225. Epub 2017 Oct 23 doi: 10.1111/ddg.13344. PMID: 29058794
Williams A, Chandrashekar L, Srivastava VM, Thomas M, Horo S, George R
Indian J Pathol Microbiol 2017 Jul-Sep;60(3):424-426. doi: 10.4103/IJPM.IJPM_91_16. PMID: 28937389
Mansour AM
Curr Opin Ophthalmol 1994 Dec;5(6):105-9. doi: 10.1097/00055735-199412000-00017. PMID: 10150822

Therapy

Mehta N, Tsui E, Ranka M, Dedania V, Lee GD, Modi Y
J AAPOS 2018 Oct;22(5):397-398. Epub 2018 Jun 19 doi: 10.1016/j.jaapos.2018.03.005. PMID: 29929003

Prognosis

Zillikens D, Mehringer A, Lechner W, Burg G
Am J Dermatopathol 1991 Feb;13(1):57-62. doi: 10.1097/00000372-199102000-00010. PMID: 2003648

Clinical prediction guides

Mehta N, Tsui E, Ranka M, Dedania V, Lee GD, Modi Y
J AAPOS 2018 Oct;22(5):397-398. Epub 2018 Jun 19 doi: 10.1016/j.jaapos.2018.03.005. PMID: 29929003

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