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Hereditary papulotranslucent acrokeratoderma

MedGen UID:
350144
•Concept ID:
C1863343
•
Disease or Syndrome
Synonym: Acrokeratoderma, Hereditary Papulotranslucent
 
Monarch Initiative: MONDO:0007046
OMIM®: 101840

Definition

A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. [from MONDO]

Clinical features

From HPO
Allergy
MedGen UID:
9370
•Concept ID:
C0020517
•
Pathologic Function
An allergy is an immune response or reaction to substances that are usually not harmful.
See: Feature record | Search on this feature
Skin plaque
MedGen UID:
69134
•Concept ID:
C0241148
•
Finding
A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.
See: Feature record | Search on this feature
Papule
MedGen UID:
507324
•Concept ID:
C0332563
•
Finding
A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.
See: Feature record | Search on this feature
Fine hair
MedGen UID:
98401
•Concept ID:
C0423867
•
Finding
Hair that is fine or thin to the touch.
See: Feature record | Search on this feature
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Recent clinical studies

Diagnosis

Hereditary papulotranslucent acrokeratoderma.
Rizzo C, Bragg J, Soldano AC, Cohen D, Soter NA
Dermatol Online J 2008 May 15;14(5):3. PMID: 18627739
Acquired aquagenic papulotranslucent acrokeratoderma: report of two cases.
Polat M, Gür G, Pelitli A, Yalçin B, Tamer E, Oztaş P, Alli N
Am J Clin Dermatol 2008;9(4):263-5. doi: 10.2165/00128071-200809040-00006. PMID: 18572977
Hereditary papulotranslucent acrokeratoderma. A new variant of familial punctate keratoderma?
Onwukwe MF, Mihm MC Jr, Toda K
Arch Dermatol 1973 Jul;108(1):108-10. doi: 10.1001/archderm.108.1.108. PMID: 4716729

Therapy

Aberrant expression of aquaporin-3 in hereditary papulotranslucent acrokeratoderma and aquagenic palmoplantar keratoderma.
Gironi LC, Colombo E, Zottarelli F, Guala A, Arduino C, Leutner M, Camillo L, Valente G, Boldorini RL, Savoia P
Eur J Dermatol 2018 Apr 1;28(2):262-263. doi: 10.1684/ejd.2018.3235. PMID: 29724688
Acquired aquagenic papulotranslucent acrokeratoderma: report of two cases.
Polat M, Gür G, Pelitli A, Yalçin B, Tamer E, Oztaş P, Alli N
Am J Clin Dermatol 2008;9(4):263-5. doi: 10.2165/00128071-200809040-00006. PMID: 18572977
Transient reactive papulotranslucent acrokeratoderma associated with cystic fibrosis.
Lowes MA, Khaira GS, Holt D
Australas J Dermatol 2000 Aug;41(3):172-4. doi: 10.1046/j.1440-0960.2000.00424.x. PMID: 10954989

Prognosis

Aberrant expression of aquaporin-3 in hereditary papulotranslucent acrokeratoderma and aquagenic palmoplantar keratoderma.
Gironi LC, Colombo E, Zottarelli F, Guala A, Arduino C, Leutner M, Camillo L, Valente G, Boldorini RL, Savoia P
Eur J Dermatol 2018 Apr 1;28(2):262-263. doi: 10.1684/ejd.2018.3235. PMID: 29724688

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