| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (17.5%) |
8338752 |
Epidermolysis bullosa simplex with mottled pigmentation. Coleman R, Harper JI, Lake BD. Br J Dermatol. 1993;128(6):679-85. |
| Mottled pigmentation Scarring | ||
| Adult Epidermolysis Bullosa Simplex Family Females Genes, Dominant Homo sapiens Infant Male Pigmentation Disorders Skin | ||
| 1 (17.5%) |
2474016 |
Epidermolysis bullosa simplex with mottled pigmentation. Bruckner-Tuderman L, Vogel A, Ruegger S, Odermatt B, Tonz O, Schnyder UW. J Am Acad Dermatol. 1989;21(2 Pt 2):425-32. |
| Mottled pigmentation Scarring | ||
| Biopsy Cytokeratin Electron Microscopy Epidermis Epidermolysis Bullosa Fluorescent Antibody Technique Homo sapiens Male Pigmentation Disorders | ||
| 3 (4.0%) |
27384765 |
Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations. Turcan I, Pasmooij AM, Van den Akker PC, Lemmink H, Sinke RJ, Jonkman MF. JAMA Dermatol. 2016;152(10):1137-1141. |
| Mottled pigmentation | ||
| c|SUB|C|3917|G p|SUB|S|1306|* | ||
| Adaptor Proteins, Signal Transducing Adult Biological Markers Codon, Nonsense Epidermolysis Bullosa Simplex Exons Females Homo sapiens Phenotype | ||
| 3 (4.0%) |
25191045 (4154158) |
Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation. Gerkowicz A, Trueb RM. Int J Trichology. 2014;6(2):80-2. |
| Mottled pigmentation | ||
| 3 (4.0%) |
24964947 |
Epidermolysis bullosa simplex with mottled pigmentation: the first Slovenian case. Bergant Suhodolan A, Drago V. Acta Dermatovenerol Alp Pannonica Adriat. 2014;23(2):33-4. |
| Macule | ||
| KRT5 | ||
| p|SUB|P|25|L;RS#:57499817 | ||
| Epidermolysis Bullosa Simplex Homo sapiens Infant, Newborn Male Slovenia | ||
| 3 (4.0%) |
22301046 |
Epidermolysis bullosa simplex with mottled pigmentation. Browning JC, Mohr B. Dermatol Online J. 2012;18(1):9. |
| Mottled pigmentation | ||
| Child Epidermolysis Bullosa Simplex Homo sapiens Keratin-5 Male Missense Mutation Pigmentation Disorders | ||
| 3 (4.0%) |
17229601 |
Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient. Pascucci M, Posteraro P, Pedicelli C, Provini A, Auricchio L, Paradisi M, Castiglia D. Eur J Dermatol. 2006;16(6):620-2. |
| Mottled pigmentation | ||
| KRT5 | ||
| p|SUB|P|25|L | ||
| Epidermolysis Bullosa Simplex Homo sapiens Infant Italy Keratin-5 Male Missense Mutation Mutation Pigmentation Disorders | ||
| 3 (4.0%) |
16581562 |
Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date. Shurman D, Losi-Sasaki J, Grimwood R, Kivirikko S, Tichy E, Uitto J, Richard G. Eur J Dermatol. 2006;16(2):132-5. |
| Hyperkeratotic papule | ||
| KRT5 | ||
| c|SUB|C|74|T;RS#:57499817 p|SUB|P|25|L;RS#:57499817 rs641615 | ||
| Adult Child Child, Preschool DNA Mutational Analysis Epidermolysis Bullosa Simplex Females Hispanic or Latino Homo sapiens Male Middle Aged Pigmentation Disorders | ||
| 3 (4.0%) |
10494094 |
Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. Moog U, de Die-Smulders CE, Scheffer H, van der Vlies P, Henquet CJ, Jonkman MF. Am J Med Genet. 1999;86(4):376-9. |
| Reticular hyperpigmentation | ||
| KRT14 KRT5 | ||
| c|SUB|C|71|T p|SUB|P|24|L rs57499817 | ||
| Adult Base Sequence Child Cytokeratin DNA DNA Mutational Analysis Electron Microscopy Epidermis Epidermolysis Bullosa Simplex Females Genes, Dominant Homo sapiens Hyperpigmentation Infant Male Point Mutation | ||
| 3 (4.0%) |
8075449 |
Epidermolysis bullosa simplex with mottled pigmentation. Case report and review of the literature. Combemale P, Kanitakis J. Dermatology. 1994;189(2):173-8. |
| Mottled pigmentation | ||
| Biopsy Epidermolysis Bullosa Simplex Females Homo sapiens Male Pigmentation Disorders Skin |
Total: 9
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001053 | Hypopigmented skin patches | Very frequent (99-80%) |
| HP:0007427 | Reticulated skin pigmentation | Very frequent (99-80%) |
| HP:0008066 | Abnormal blistering of the skin | Very frequent (99-80%) |
| HP:0000978 | Bruising susceptibility | Frequent (79-30%) |
| HP:0000982 | Palmoplantar keratoderma | Frequent (79-30%) |
| HP:0004334 | Dermal atrophy | Frequent (79-30%) |
| HP:0007495 | Prematurely aged appearance | Frequent (79-30%) |
| HP:0008404 | Nail dystrophy | Frequent (79-30%) |
| HP:0001056 | Milia | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001070 | Mottled pigmentation | 1 |