U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Ichthyosis hystrix

MedGen UID:
75527
•Concept ID:
C0263580
•
Disease or Syndrome
Synonym: ichthyosis hystrix
SNOMED CT: Ichthyosis hystrix (67510007)
 
Monarch Initiative: MONDO:0859383
OMIM® Phenotypic series: PS146590

Professional guidelines

PubMed

Disturbed keratin expression and distinct genotype of ichthyosis hystrix Lambert type.
Wang WH, Song SJ, Li LF, Zhang L, Yang SM, Zhang Q, Wang YY, Sun TT
Eur J Dermatol 2010 Sep-Oct;20(5):567-72. Epub 2010 Jul 7 doi: 10.1684/ejd.2010.1015. PMID: 20605767
Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolyses: pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis.
Anton-Lamprecht I
J Invest Dermatol 1983 Jul;81(1 Suppl):149s-56s. doi: 10.1111/1523-1747.ep12540961. PMID: 6345689

Recent clinical studies

Etiology

Seborrheic distributed papules with palmoplantar hyperkeratosis--quiz case. Diagnosis: Ichthyosis hystrix, Curth-Macklin type.
Cook-Norris R, Shook BA, Wells MJ, Stetson CL
Arch Dermatol 2005 Jun;141(6):779-84. doi: 10.1001/archderm.141.6.779-b. PMID: 15967930
Congenital ichthyosis with hypogonadism and growth retardation--a new syndrome with peculiar ultrastructural features.
Arnold ML, Anton-Lamprecht I, Albrecht-Nebe H
Arch Dermatol Res 1992;284(4):198-208. doi: 10.1007/BF00375793. PMID: 1417065
Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolyses: pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis.
Anton-Lamprecht I
J Invest Dermatol 1983 Jul;81(1 Suppl):149s-56s. doi: 10.1111/1523-1747.ep12540961. PMID: 6345689
Ichthyosis hystrix. Epidermolytic hyperkeratosis; discordant in monozygotic twins.
Adam JE, Richards R
Arch Dermatol 1973 Feb;107(2):278-82. doi: 10.1001/archderm.107.2.278. PMID: 4685586
Follow-up of a family group suffering from ichthyosis hystrix type Curth-Macklin.
Ollendorff-Curth H, Allen FH Jr, Schnyder UW, Anton-Lamprecht I
Humangenetik 1972;17(1):37-48. doi: 10.1007/BF01789598. PMID: 4630590

Diagnosis

Systematized linear epidermolytic hyperkeratosis.
Kumar P, Kumar R, Mandal RK, Hassan S
Dermatol Online J 2014 Jan 15;20(1):21248. PMID: 24456951
A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.
Bergman R, Khamaysi Z, Sprecher E
Am J Dermatopathol 2008 Apr;30(2):101-5. doi: 10.1097/DAD.0b013e3181614898. PMID: 18360110
A patient with congenital ichthyosis hystrix (disseminated congenital naevus) and acute lymphoblastic leukaemia.
Au WY, Ma SY, Yeung CK, Chan HH, Trendell-Smith N
Leuk Lymphoma 2003 Jan;44(1):209-12. doi: 10.1080/1042819021000054724. PMID: 12691167
Ichthyosis hystrix.
Thappa DM, Jeevankumar B
Indian Pediatr 2003 Feb;40(2):169. PMID: 12626836
Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolyses: pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis.
Anton-Lamprecht I
J Invest Dermatol 1983 Jul;81(1 Suppl):149s-56s. doi: 10.1111/1523-1747.ep12540961. PMID: 6345689

Therapy

Seborrheic distributed papules with palmoplantar hyperkeratosis--quiz case. Diagnosis: Ichthyosis hystrix, Curth-Macklin type.
Cook-Norris R, Shook BA, Wells MJ, Stetson CL
Arch Dermatol 2005 Jun;141(6):779-84. doi: 10.1001/archderm.141.6.779-b. PMID: 15967930
A patient with congenital ichthyosis hystrix (disseminated congenital naevus) and acute lymphoblastic leukaemia.
Au WY, Ma SY, Yeung CK, Chan HH, Trendell-Smith N
Leuk Lymphoma 2003 Jan;44(1):209-12. doi: 10.1080/1042819021000054724. PMID: 12691167
Epidermolytic hyperkeratosis with ichthyosis hystrix.
Baleviciené G, Schwartz RA
Cutis 2000 Nov;66(5):319-22. PMID: 11107513
Ichthyosis hystrix (Curth-Macklin). Light and electron microscopic studies performed before and after etretinate treatment.
Kanerva L, Karvonen J, Oikarinen A, Lauharanta J, Ruokonen A, Niemi KM
Arch Dermatol 1984 Sep;120(9):1218-23. doi: 10.1001/archderm.120.9.1218. PMID: 6206802
Ichthyosis hystrix.
Ronchese F
Arch Dermatol 1969 Jan;99(1):125-7. doi: 10.1001/archderm.99.1.125a. PMID: 5761798

Prognosis

A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
Richardson ES, Lee JB, Hyde PH, Richard G
J Invest Dermatol 2006 Jan;126(1):79-84. doi: 10.1038/sj.jid.5700025. PMID: 16417221
Seborrheic distributed papules with palmoplantar hyperkeratosis--quiz case. Diagnosis: Ichthyosis hystrix, Curth-Macklin type.
Cook-Norris R, Shook BA, Wells MJ, Stetson CL
Arch Dermatol 2005 Jun;141(6):779-84. doi: 10.1001/archderm.141.6.779-b. PMID: 15967930
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
Sprecher E, Yosipovitch G, Bergman R, Ciubutaro D, Indelman M, Pfendner E, Goh LC, Miller CJ, Uitto J, Richard G
J Invest Dermatol 2003 Apr;120(4):623-6. doi: 10.1046/j.1523-1747.2003.12084.x. PMID: 12648226
KID syndrome associated with features of ichthyosis hystrix.
Nousari HC, Kimyai-Asadi A, Pinto JL
Pediatr Dermatol 2000 Mar-Apr;17(2):115-7. doi: 10.1046/j.1525-1470.2000.01726.x. PMID: 10792799

Clinical prediction guides

A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.
Bergman R, Khamaysi Z, Sprecher E
Am J Dermatopathol 2008 Apr;30(2):101-5. doi: 10.1097/DAD.0b013e3181614898. PMID: 18360110
Ultrastructural features of ichthyosis hystrix strongly resembling Lambert type.
Wang WH, Li LF, Zhang Q, Yang SM, Jiang W, Wang YY, Lei PC, Chen XR
Br J Dermatol 2007 May;156(5):1027-31. Epub 2007 Mar 13 doi: 10.1111/j.1365-2133.2007.07792.x. PMID: 17355236
A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
Richardson ES, Lee JB, Hyde PH, Richard G
J Invest Dermatol 2006 Jan;126(1):79-84. doi: 10.1038/sj.jid.5700025. PMID: 16417221
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
Sprecher E, Yosipovitch G, Bergman R, Ciubutaro D, Indelman M, Pfendner E, Goh LC, Miller CJ, Uitto J, Richard G
J Invest Dermatol 2003 Apr;120(4):623-6. doi: 10.1046/j.1523-1747.2003.12084.x. PMID: 12648226
Ichthyosis hystrix (Curth-Macklin). Light and electron microscopic studies performed before and after etretinate treatment.
Kanerva L, Karvonen J, Oikarinen A, Lauharanta J, Ruokonen A, Niemi KM
Arch Dermatol 1984 Sep;120(9):1218-23. doi: 10.1001/archderm.120.9.1218. PMID: 6206802

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...