| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (28.9%) |
22831754 |
Collodion baby and loricrin keratoderma: a case report and mutation analysis. Yeh JM, Yang MH, Chao SC. Clin Exp Dermatol. 2013;38(2):147-50. |
| Palmoplantar hyperkeratosis | ||
| LOR | ||
| c|INS|730|G | ||
| Homo sapiens Ichthyosiform Erythroderma, Congenital Keratoderma, Palmoplantar Male Membrane Proteins Mutation Young Adult | ||
| 2 (22.8%) |
16403113 |
Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature. Gedicke MM, Traupe H, Fischer B, Tinschert S, Hennies HC. Br J Dermatol. 2006;154(1):167-71. |
| Palmoplantar keratoderma Autoamputation | ||
| LOR | ||
| c|INS|730|G | ||
| DNA Mutational Analysis Females Homo sapiens Ichthyosiform Erythroderma, Congenital Keratoderma, Palmoplantar Male Membrane Proteins Mutation Single Nucleotide Polymorphism Skin Diseases, Genetic | ||
| 3 (4.0%) |
14721769 |
Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation. Ogawa F, Udono M, Murota H, Shimizu K, Takahashi H, Ishida-Yamamoto A, Iizuka H, Katayama I. Eur J Dermatol. 2003;13(6):524-8. |
| Hyperkeratosis | ||
| Adenocarcinoma Females Homo sapiens Keratoderma, Palmoplantar Lung Neoplasms Membrane Proteins Middle Aged Mutation Neoplasms, Multiple Primary Osteolysis Skin Neoplasms Syndrome | ||
| 3 (4.0%) |
12220269 |
Erythrokeratodermia variabilis with erythema gyratum repens-like lesions. Landau M, Cohen-Bar-Dayan M, Hohl D, Ophir J, Wolf CR, Gat A, Mevorah B. Pediatr Dermatol. 2002;19(4):285-92. |
| Keratitis | ||
| LOR | ||
| Adult Child Erythema Females Genetic Predisposition to Disease Heterozygote Homo sapiens Hyperkeratosis, Epidermolytic Ichthyosiform Erythroderma, Congenital Immunohistochemistry Infant Infant, Newborn Israel Male Middle Aged Sampling Studies Severity of Illness Index Skin Diseases, Genetic | ||
| 3 (4.0%) |
11703298 |
Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby. Matsumoto K, Muto M, Seki S, Saida T, Horiuchi N, Takahashi H, Ishida-Yamamoto A, Iizuka H. Br J Dermatol. 2001;145(4):657-60. |
| Palmoplantar keratoderma | ||
| LOR | ||
| Child Congenital Nonbullous Ichthyosiform Erythroderma Females Homo sapiens Ichthyosiform Erythroderma, Congenital Male Membrane Proteins Mutagenesis, Insertional |
Total: 7
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0007465 | Honeycomb palmoplantar keratoderma | Very frequent (99-80%) |
| HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | Very frequent (99-80%) |
| HP:0008064 | Ichthyosis | Very frequent (99-80%) |
| HP:0000407 | Sensorineural hearing impairment | Occasional (29-5%) |
| HP:0001805 | Onychogryposis | Occasional (29-5%) |
| HP:0008404 | Nail dystrophy | Occasional (29-5%) |
| HP:0009775 | Amniotic constriction ring | Occasional (29-5%) |
Total: 4
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0007431 | Congenital ichthyosiform erythroderma | 2 |
| HP:0000491 | Keratitis | 1 |
| HP:0000982 | Palmoplantar keratoderma | 1 |
| HP:0007465 | Honeycomb palmoplantar keratoderma | 1 |