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Absent keratohyalin granules

MedGen UID:
1785642
•Concept ID:
C5539824
•
Finding
HPO: HP:0033807

Definition

Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent keratohyalin granules

Conditions with this feature

Ichthyosis vulgaris
MedGen UID:
38217
•Concept ID:
C0079584
•
Disease or Syndrome
The phenotypic characteristics of ichthyosis vulgaris include palmar hyperlinearity, keratosis pilaris, and a fine scale that is most prominent over the lower abdomen, arms, and legs. Marked presentation includes prominent scaling, whereas mild presentation consists of palmar hyperlinearity, keratosis pilaris, and, in some cases, fine scaling (summary by Smith et al., 2006).
See: Condition Record
Ichthyosis vulgaris

Professional guidelines

PubMed

New observations on the fine structure of lamellar ichthyosis and the effect of treatment with etretinate.
Kanerva L, Lauharanta J, Niemi KM, Lassus A
Am J Dermatopathol 1983 Dec;5(6):555-68. doi: 10.1097/00000372-198312000-00006. PMID: 6666837

Recent clinical studies

Etiology

Absence of the granular layer and keratohyalin define a morphologically distinct subset of individuals with ichthyosis vulgaris.
Fleckman P, Brumbaugh S
Exp Dermatol 2002 Aug;11(4):327-36. doi: 10.1034/j.1600-0625.2002.110406.x. PMID: 12190941

Diagnosis

Immunolabeling for filaggrin and acidic keratins in the granular layer of mammalian epidermis indicates that an acidic-basic interaction is involved in cornification.
Alibardi L
Tissue Cell 2024 Jun;88:102397. Epub 2024 Apr 25 doi: 10.1016/j.tice.2024.102397. PMID: 38677234
Mice deficient for the epidermal dermokine β and γ isoforms display transient cornification defects.
Leclerc EA, Huchenq A, Kezic S, Serre G, Jonca N
J Cell Sci 2014 Jul 1;127(Pt 13):2862-72. Epub 2014 May 2 doi: 10.1242/jcs.144808. PMID: 24794495
Histologic and immunohistochemical characteristics of cutaneous cysts in Goltz-Gorlin syndrome: clues for differentiation of nonsyndromic cysts.
Tirado M, Ständer S, Metze D
Am J Dermatopathol 2014 Nov;36(11):892-8. doi: 10.1097/DAD.0000000000000081. PMID: 24698937
Absence of the granular layer and keratohyalin define a morphologically distinct subset of individuals with ichthyosis vulgaris.
Fleckman P, Brumbaugh S
Exp Dermatol 2002 Aug;11(4):327-36. doi: 10.1034/j.1600-0625.2002.110406.x. PMID: 12190941
Squamous differentiation and basal lamina deposition in endometrial adenoacanthoma.
Gould VE, Sommers SC, Terzakis JA
Am J Pathol 1976 Jul;84(1):25-38. PMID: 945698Free PMC Article

Therapy

Persistent Keratoses in Vitiligo.
Cupertino F, Niemeyer-Corbellini JP, Cuzzi T, Ramos-E-Silva M
Skinmed 2019;17(6):380-385. Epub 2019 Nov 1 PMID: 31904327
New observations on the fine structure of lamellar ichthyosis and the effect of treatment with etretinate.
Kanerva L, Lauharanta J, Niemi KM, Lassus A
Am J Dermatopathol 1983 Dec;5(6):555-68. doi: 10.1097/00000372-198312000-00006. PMID: 6666837
Squamous differentiation and basal lamina deposition in endometrial adenoacanthoma.
Gould VE, Sommers SC, Terzakis JA
Am J Pathol 1976 Jul;84(1):25-38. PMID: 945698Free PMC Article

Prognosis

Histologic and immunohistochemical characteristics of cutaneous cysts in Goltz-Gorlin syndrome: clues for differentiation of nonsyndromic cysts.
Tirado M, Ständer S, Metze D
Am J Dermatopathol 2014 Nov;36(11):892-8. doi: 10.1097/DAD.0000000000000081. PMID: 24698937
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis.
Nomura T, Sandilands A, Akiyama M, Liao H, Evans AT, Sakai K, Ota M, Sugiura H, Yamamoto K, Sato H, Palmer CN, Smith FJ, McLean WH, Shimizu H
J Allergy Clin Immunol 2007 Feb;119(2):434-40. doi: 10.1016/j.jaci.2006.12.646. PMID: 17291859
Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome.
Hausser I, Anton-Lamprecht I
Pediatr Dermatol 1996 May-Jun;13(3):183-99. doi: 10.1111/j.1525-1470.1996.tb01202.x. PMID: 8806118
Squamous differentiation and basal lamina deposition in endometrial adenoacanthoma.
Gould VE, Sommers SC, Terzakis JA
Am J Pathol 1976 Jul;84(1):25-38. PMID: 945698Free PMC Article

Clinical prediction guides

Persistent Keratoses in Vitiligo.
Cupertino F, Niemeyer-Corbellini JP, Cuzzi T, Ramos-E-Silva M
Skinmed 2019;17(6):380-385. Epub 2019 Nov 1 PMID: 31904327
The morphology of keratohyalin granules in orthokeratotic and parakeratotic skin and oral mucosa.
Westerhof W, Dingemans KP
Int J Dermatol 1987 Jun;26(5):308-13. doi: 10.1111/j.1365-4362.1987.tb00195.x. PMID: 2440821
New observations on the fine structure of lamellar ichthyosis and the effect of treatment with etretinate.
Kanerva L, Lauharanta J, Niemi KM, Lassus A
Am J Dermatopathol 1983 Dec;5(6):555-68. doi: 10.1097/00000372-198312000-00006. PMID: 6666837
Phenotypic expression of epidermal cells in vitro: a review.
Holbrook KA, Hennings H
J Invest Dermatol 1983 Jul;81(1 Suppl):11s-24s. doi: 10.1111/1523-1747.ep12540003. PMID: 6345688
Squamous differentiation and basal lamina deposition in endometrial adenoacanthoma.
Gould VE, Sommers SC, Terzakis JA
Am J Pathol 1976 Jul;84(1):25-38. PMID: 945698Free PMC Article

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