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Absent pigmentation of the limbs

MedGen UID:
868556
•Concept ID:
C4022955
•
Finding
HPO: HP:0012320

Definition

Lack of skin pigmentation (coloring) of the arms and legs. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent pigmentation of the limbs

Professional guidelines

PubMed

Combination therapy of hyaluronic acid mesotherapic injections and sclerotherapy for treatment of lower leg telangiectasia without major venous insufficiency: a preliminary clinical study.
Iannitti T, Rottigni V, Torricelli F, Palmieri B
Clin Appl Thromb Hemost 2014 Apr;20(3):326-30. Epub 2012 Oct 17 doi: 10.1177/1076029612461844. PMID: 23076772
Characteristics of spitzoid melanoma and clues for differential diagnosis with spitz nevus.
Requena C, Botella R, Nagore E, Sanmartín O, Llombart B, Serra-Guillén C, Guillén C, Requena L, Traves V
Am J Dermatopathol 2012 Jul;34(5):478-86. doi: 10.1097/DAD.0b013e318234e780. PMID: 22257900
Diagnosis and treatment of neurogenic bladder due to partial sacral agenesis.
Saito M, Kondo A, Kato K
Br J Urol 1991 May;67(5):472-6. doi: 10.1111/j.1464-410x.1991.tb15189.x. PMID: 2039916

Recent clinical studies

Etiology

High-voltage electric stimulation of the donor site of skin grafts accelerates the healing process. A randomized blinded clinical trial.
Gomes RC, Guirro ECO, Gonçalves AC, Farina Junior JA, Murta Junior LO, Guirro RRJ
Burns 2018 May;44(3):636-645. doi: 10.1016/j.burns.2017.10.006. PMID: 29402577
Partial unilateral lentiginosis is mosaic neurofibromatosis type 1 or not?
Yaşar Ş, Ersanli A, Göktay F, Aytekin S, Cebeci D, Güneş P
J Dermatol 2017 Jan;44(1):29-35. Epub 2016 Jul 21 doi: 10.1111/1346-8138.13510. PMID: 27439996
Granulomatous pigmented purpura: report of a case and review of the literature.
Kaplan J, Burgin S, Sepehr A
J Cutan Pathol 2011 Dec;38(12):984-9. Epub 2011 Jul 14 doi: 10.1111/j.1600-0560.2011.01744.x. PMID: 21752054
Confetti-like macular atrophy: A new entity?
Aksoy B, Ustün H, Gülbahçe R, Balci M, Aksoy HM, Civaş E, Atakan N
J Dermatol 2009 Nov;36(11):592-7. doi: 10.1111/j.1346-8138.2009.00709.x. PMID: 19878392
Synovial excrescences and cysts of the spine: clinicopathological features and contributions to spinal stenosis.
Sze CI, Kindt G, Huffer WB, Chang M, Wang M, Kleinschmidt-DeMasters BK
Clin Neuropathol 2004 Mar-Apr;23(2):80-90. PMID: 15074582

Diagnosis

Dyschromatosis Universalis Hereditaria.
Bista M , Agrawal S , Agrawal Y
Kathmandu Univ Med J (KUMJ) 2021 Jan.-Mar;19(73):146-147. PMID: 34812175
Partial unilateral lentiginosis is mosaic neurofibromatosis type 1 or not?
Yaşar Ş, Ersanli A, Göktay F, Aytekin S, Cebeci D, Güneş P
J Dermatol 2017 Jan;44(1):29-35. Epub 2016 Jul 21 doi: 10.1111/1346-8138.13510. PMID: 27439996
Characteristics of spitzoid melanoma and clues for differential diagnosis with spitz nevus.
Requena C, Botella R, Nagore E, Sanmartín O, Llombart B, Serra-Guillén C, Guillén C, Requena L, Traves V
Am J Dermatopathol 2012 Jul;34(5):478-86. doi: 10.1097/DAD.0b013e318234e780. PMID: 22257900
Confetti-like macular atrophy: A new entity?
Aksoy B, Ustün H, Gülbahçe R, Balci M, Aksoy HM, Civaş E, Atakan N
J Dermatol 2009 Nov;36(11):592-7. doi: 10.1111/j.1346-8138.2009.00709.x. PMID: 19878392
Late-onset Rothmund-Thomson syndrome.
Kumar P, Sharma PK, Gautam RK, Jain RK, Kar HK
Int J Dermatol 2007 May;46(5):492-3. doi: 10.1111/j.1365-4632.2007.03248.x. PMID: 17472679

Therapy

High-voltage electric stimulation of the donor site of skin grafts accelerates the healing process. A randomized blinded clinical trial.
Gomes RC, Guirro ECO, Gonçalves AC, Farina Junior JA, Murta Junior LO, Guirro RRJ
Burns 2018 May;44(3):636-645. doi: 10.1016/j.burns.2017.10.006. PMID: 29402577
Combination therapy of hyaluronic acid mesotherapic injections and sclerotherapy for treatment of lower leg telangiectasia without major venous insufficiency: a preliminary clinical study.
Iannitti T, Rottigni V, Torricelli F, Palmieri B
Clin Appl Thromb Hemost 2014 Apr;20(3):326-30. Epub 2012 Oct 17 doi: 10.1177/1076029612461844. PMID: 23076772
Generalized linear porokeratosis.
Dervis E, Demirkesen C
Int J Dermatol 2006 Sep;45(9):1077-9. doi: 10.1111/j.1365-4632.2004.02490.x. PMID: 16961514
Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients.
Ogata T, Muroya K, Matsuo N, Shinohara O, Yorifuji T, Nishi Y, Hasegawa Y, Horikawa R, Tachibana K
J Clin Endocrinol Metab 2001 Nov;86(11):5498-508. doi: 10.1210/jcem.86.11.8058. PMID: 11701728
Leukoderma punctata.
Falabella R, Escobar CE, Carrascal E, Arroyave JA
J Am Acad Dermatol 1988 Mar;18(3):485-94. doi: 10.1016/s0190-9622(88)70071-7. PMID: 3351013

Prognosis

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.
Rumping L, Wessels MW, Postma AV, van Schuppen J, van Slegtenhorst MA, Saris JJ, van Tintelen JP, Robertson SP, Alders M, Maas SM, Deprez RHL
Am J Med Genet A 2021 Dec;185(12):3814-3820. Epub 2021 Jul 13 doi: 10.1002/ajmg.a.62417. PMID: 34254723Free PMC Article
Characteristics of spitzoid melanoma and clues for differential diagnosis with spitz nevus.
Requena C, Botella R, Nagore E, Sanmartín O, Llombart B, Serra-Guillén C, Guillén C, Requena L, Traves V
Am J Dermatopathol 2012 Jul;34(5):478-86. doi: 10.1097/DAD.0b013e318234e780. PMID: 22257900
Confetti-like macular atrophy: A new entity?
Aksoy B, Ustün H, Gülbahçe R, Balci M, Aksoy HM, Civaş E, Atakan N
J Dermatol 2009 Nov;36(11):592-7. doi: 10.1111/j.1346-8138.2009.00709.x. PMID: 19878392
Idiopathic eruptive macular pigmentation: report of 10 cases.
Jang KA, Choi JH, Sung KS, Moon KC, Koh JK
J Am Acad Dermatol 2001 Feb;44(2 Suppl):351-3. doi: 10.1067/mjd.2001.103642. PMID: 11174413
Leukoderma punctata.
Falabella R, Escobar CE, Carrascal E, Arroyave JA
J Am Acad Dermatol 1988 Mar;18(3):485-94. doi: 10.1016/s0190-9622(88)70071-7. PMID: 3351013

Clinical prediction guides

Characteristics of spitzoid melanoma and clues for differential diagnosis with spitz nevus.
Requena C, Botella R, Nagore E, Sanmartín O, Llombart B, Serra-Guillén C, Guillén C, Requena L, Traves V
Am J Dermatopathol 2012 Jul;34(5):478-86. doi: 10.1097/DAD.0b013e318234e780. PMID: 22257900
Late-onset Rothmund-Thomson syndrome.
Kumar P, Sharma PK, Gautam RK, Jain RK, Kar HK
Int J Dermatol 2007 May;46(5):492-3. doi: 10.1111/j.1365-4632.2007.03248.x. PMID: 17472679
Generalized linear porokeratosis.
Dervis E, Demirkesen C
Int J Dermatol 2006 Sep;45(9):1077-9. doi: 10.1111/j.1365-4632.2004.02490.x. PMID: 16961514
A new clinical severity scoring system for reflex sympathetic dystrophy of the upper limb.
Zyluk A
J Hand Surg Br 2003 Jun;28(3):238-41. doi: 10.1016/s0266-7681(02)00397-2. PMID: 12809656
Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients.
Ogata T, Muroya K, Matsuo N, Shinohara O, Yorifuji T, Nishi Y, Hasegawa Y, Horikawa R, Tachibana K
J Clin Endocrinol Metab 2001 Nov;86(11):5498-508. doi: 10.1210/jcem.86.11.8058. PMID: 11701728

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