Absence of epidermal lamellar bodies

MedGen UID:: 1842049
•Concept ID:: C5826696
•: Finding

HPO:	HP:0034840

Definition

Lack of lamellar bodies (LBs) inthe epidermis. LBs are specialized organelles that contain pro-barrier lipids imparting a fully lamellar internal structure, but also other cargoes such as enzymes (lipid metabolizing and proteolytic), enzyme inhibitors, and antimicrobial peptides. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbsence of epidermal lamellar bodies

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Abnormal skin morphology
      - Abnormal epidermal morphology
        Absence of epidermal lamellar bodies

Recent clinical studies

Etiology

Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization.

Menon GK, Orsó E, Aslanidis C, Crumrine D, Schmitz G, Elias PM
Arch Dermatol Res 2014 Oct;306(8):731-7. Epub 2014 Jun 12 doi: 10.1007/s00403-014-1478-2. PMID: 24920240 Free PMC Article

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Diagnosis

Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization.

Menon GK, Orsó E, Aslanidis C, Crumrine D, Schmitz G, Elias PM
Arch Dermatol Res 2014 Oct;306(8):731-7. Epub 2014 Jun 12 doi: 10.1007/s00403-014-1478-2. PMID: 24920240 Free PMC Article

See all (1)

Prognosis

Disseminated superficial porokeratosis in a patient with AIDS.

Kanitakis J, Misery L, Nicolas JF, Lyonnet S, Chouvet B, Haftek M, Faure M, Claudy A, Thivolet J
Br J Dermatol 1994 Aug;131(2):284-9. doi: 10.1111/j.1365-2133.1994.tb08507.x. PMID: 7917997

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Clinical prediction guides

Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization.

Menon GK, Orsó E, Aslanidis C, Crumrine D, Schmitz G, Elias PM
Arch Dermatol Res 2014 Oct;306(8):731-7. Epub 2014 Jun 12 doi: 10.1007/s00403-014-1478-2. PMID: 24920240 Free PMC Article

Vitamin C enhances differentiation of a continuous keratinocyte cell line (REK) into epidermis with normal stratum corneum ultrastructure and functional permeability barrier.

Pasonen-Seppänen S, Suhonen TM, Kirjavainen M, Suihko E, Urtti A, Miettinen M, Hyttinen M, Tammi M, Tammi R
Histochem Cell Biol 2001 Oct;116(4):287-97. doi: 10.1007/s004180100312. PMID: 11702187

Influence of epidermal growth factor and transforming growth factor beta-1 on patterns of fetal mouse lung branching morphogenesis in organ culture.

Chinoy MR, Zgleszewski SE, Cilley RE, Blewett CJ, Krummel TM, Reisher SR, Feinstein SI
Pediatr Pulmonol 1998 Apr;25(4):244-56. doi: 10.1002/(sici)1099-0496(199804)25:4<244::aid-ppul5>3.0.co;2-k. PMID: 9590485

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Absence of epidermal lamellar bodies

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

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