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Congenital symmetrical palmoplantar keratosis

MedGen UID:
344502
•Concept ID:
C1855459
•
Congenital Abnormality; Finding
HPO: HP:0007553

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital symmetrical palmoplantar keratosis

Conditions with this feature

Acroerythrokeratoderma
MedGen UID:
7522
•Concept ID:
C0025221
•
Congenital Abnormality
Mal de Meleda (MDM) is a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma (PPK), keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities (summary by Fischer et al., 2001).
See: Condition Record
Acroerythrokeratoderma

Recent clinical studies

Etiology

Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin.
Ishida-Yamamoto A
J Dermatol Sci 2003 Feb;31(1):3-8. doi: 10.1016/s0923-1811(02)00143-3. PMID: 12615358
Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby.
Matsumoto K, Muto M, Seki S, Saida T, Horiuchi N, Takahashi H, Ishida-Yamamoto A, Iizuka H
Br J Dermatol 2001 Oct;145(4):657-60. doi: 10.1046/j.1365-2133.2001.04412.x. PMID: 11703298
Severe limb defects and craniofacial anomalies in a fetus conceived during acitretin therapy.
de Die-Smulders CE, Sturkenboom MC, Veraart J, van Katwijk C, Sastrowijoto P, van der Linden E
Teratology 1995 Oct;52(4):215-9. doi: 10.1002/tera.1420520407. PMID: 8838291
Oral retinoid (Tigason R etretinate) therapy in congenital disorders of keratinisation.
Rajan VS, Thirumoorthy T
Ann Acad Med Singap 1983 Jan;12(1):45-51. PMID: 6222685

Diagnosis

Case for diagnosis. Acrokeratoelastoidosis.
Costa MC, Bornhausen Demarch E, Hertz A, Pereira FB, Azulay DR
An Bras Dermatol 2011 Nov-Dec;86(6):1222-3. doi: 10.1590/s0365-05962011000600030. PMID: 22281920
Nonmutilating palmoplantar and periorificial kertoderma: a variant of Olmsted syndrome or a distinct entity?
Nofal A, Assaf M, Nassar A, Nofal E, Shehab M, El-Kabany M
Int J Dermatol 2010 Jun;49(6):658-65. doi: 10.1111/j.1365-4632.2009.04429.x. PMID: 20618471
Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin.
Ishida-Yamamoto A
J Dermatol Sci 2003 Feb;31(1):3-8. doi: 10.1016/s0923-1811(02)00143-3. PMID: 12615358
Olmsted syndrome.
Perry HO, Su WP
Semin Dermatol 1995 Jun;14(2):145-51. doi: 10.1016/s1085-5629(05)80011-2. PMID: 7640195
Jadassohn-Lewandowski syndrome (pachyonychia congenita).
Dahl PR, Daoud MS, Su WP
Semin Dermatol 1995 Jun;14(2):129-34. doi: 10.1016/s1085-5629(05)80008-2. PMID: 7640192

Therapy

Olmsted syndrome.
Ali ME, Sikdar AU, Akhtar N, Islam ZM
Mymensingh Med J 2007 Jan;16(1):100-3. doi: 10.3329/mmj.v16i1.262. PMID: 17344790
Severe limb defects and craniofacial anomalies in a fetus conceived during acitretin therapy.
de Die-Smulders CE, Sturkenboom MC, Veraart J, van Katwijk C, Sastrowijoto P, van der Linden E
Teratology 1995 Oct;52(4):215-9. doi: 10.1002/tera.1420520407. PMID: 8838291

Prognosis

Oral retinoid (Tigason R etretinate) therapy in congenital disorders of keratinisation.
Rajan VS, Thirumoorthy T
Ann Acad Med Singap 1983 Jan;12(1):45-51. PMID: 6222685

Clinical prediction guides

Severe limb defects and craniofacial anomalies in a fetus conceived during acitretin therapy.
de Die-Smulders CE, Sturkenboom MC, Veraart J, van Katwijk C, Sastrowijoto P, van der Linden E
Teratology 1995 Oct;52(4):215-9. doi: 10.1002/tera.1420520407. PMID: 8838291
Olmsted syndrome.
Perry HO, Su WP
Semin Dermatol 1995 Jun;14(2):145-51. doi: 10.1016/s1085-5629(05)80011-2. PMID: 7640195

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