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Cobblestone-like hyperkeratosis

MedGen UID:
1626235
Concept ID:
C4531224
Disease or Syndrome
HPO: HP:0031288

Definition

The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCobblestone-like hyperkeratosis

Conditions with this feature

Ichthyosis, hystrix-like, with hearing loss
MedGen UID:
355410
Concept ID:
C1865234
Disease or Syndrome
Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills.\n\nNewborns with HID typically develop reddened skin. The skin abnormalities worsen over time, and the ichthyosis eventually covers most of the body, although the palms of the hands and soles of the feet are usually only mildly affected. Breaks in the skin may occur and in severe cases can lead to life-threatening infections. Affected individuals have an increased risk of developing a type of skin cancer called squamous cell carcinoma, which can also affect mucous membranes such as the inner lining of the mouth. People with HID may also have patchy hair loss caused by scarring on particular areas of skin.
Epidermolytic hyperkeratosis 2
MedGen UID:
1831005
Concept ID:
C5781877
Disease or Syndrome

Recent clinical studies

Etiology

Hadian Y, Link D, Dahle SE, Isseroff RR
Dermatol Online J 2019 Dec 15;25(12) PMID: 32045164

Diagnosis

Chen L, Wang Y, Gao X, Qin B, Lian J, Ren M, Zhang W, Wei R, Li Q
Skin Res Technol 2022 Sep;28(5):703-707. Epub 2022 Jun 21 doi: 10.1111/srt.13170. PMID: 35726961Free PMC Article
Saggini A, Mully T
J Cutan Pathol 2014 Apr;41(4):380-5. Epub 2014 Jan 30 doi: 10.1111/cup.12276. PMID: 24325801

Prognosis

Hadian Y, Link D, Dahle SE, Isseroff RR
Dermatol Online J 2019 Dec 15;25(12) PMID: 32045164

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