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Ichthyosis hystrix, Curth Macklin type(IHCM)

MedGen UID:
326700
Concept ID:
C1840296
Disease or Syndrome
Synonyms: IHCM
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: KRT1
Cytogenetic location: 12q13.13
OMIM®: 146590
Orphanet: ORPHA79503

Definition

Anton-Lamprecht (1978) stated that 4 genetic disorders of keratinization were known to have a structural defect of tonofibrils. (1) In the harlequin fetus (242500), an abnormal x-ray diffraction pattern of the horn material points to a cross-beta-protein structure instead of the normal alpha-protein structure of keratin. (2) Bullous ichthyosiform erythroderma (EHK; 113800) is characterized by an early formation of clumps and perinuclear shells due to an abnormal arrangement of tonofibrils. (3) In the Curth-Macklin form of ichthyosis hystrix, concentric unbroken shells of abnormal tonofilaments form around the nucleus. (4) In ichthyosis hystrix gravior (146600), only rudimentary tonofilaments are found with compensatory production of mucous granules. [from OMIM]

Clinical features

Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Hyperkeratosis
MedGen UID:
504662
Concept ID:
CN000900
Finding
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Abnormality of the fingernails
MedGen UID:
446395
Concept ID:
CN001134
Finding
An abnormality of the fingernails.
Ichthyosis
MedGen UID:
429191
Concept ID:
CN007091
Finding
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Skin ulcer
MedGen UID:
506561
Concept ID:
CN117783
Finding
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Abnormality of metabolism/homeostasis
MedGen UID:
446429
Concept ID:
CN001754
Finding
Gangrene
MedGen UID:
506533
Concept ID:
CN117648
Finding
A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.

Recent clinical studies

Etiology

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

Diagnosis

Kumar P, Kumar R, Mandal RK, Hassan S
Dermatol Online J 2014 Jan 15;20(1):21248. PMID: 24456951
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

Therapy

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

Prognosis

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

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