Hereditary acrokeratotic poikiloderma of Kindler-Weary

General Information (adopted from Orphanet):

Synonyms, Signs: BULLOUS ACROKERATOTIC POIKILODERMA OF KINDLER AND WEARY
POIKILODERMA, CONGENITAL, WITH BULLAE, WEARY TYPE
POIKILODERMA, HEREDITARY ACROKERATOTIC
Number of Symptoms 19
OrphanetNr: 306539
OMIM Id: 173650
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic photodermatosis
 -Rare genetic disease
Rare photodermatosis
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0001741) Phimosis 5 / 7739
2
 (HPO:0000670) Carious teeth 145 / 7739
3
 (HPO:0000704) Periodontitis 24 / 7739
4
 (HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
5
 (HPO:0009775) Amniotic constriction ring 21 / 7739
6
 (HPO:0004334) Dermal atrophy 34 / 7739
7
 (HPO:0007561) Telangiectases in sun-exposed and nonexposed skin 1 / 7739
8
 (HPO:0005590) Spotty hypopigmentation 10 / 7739
9
 (HPO:0005585) Spotty hyperpigmentation 8 / 7739
10
 (HPO:0000992) Cutaneous photosensitivity 75 / 7739
11
 (HPO:0007488) Diffuse skin atrophy 1 / 7739
12
 (HPO:0001807) Ridged nail 20 / 7739
13
 (HPO:0001030) Fragile skin 25 / 7739
14
 (OMIM) Neonatal acral blistering 1 / 7739
15
 (OMIM) Digital webbing 1 / 7739
16
 (OMIM) Nail grooving 1 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
 (OMIM) Diffuse skin wrinkling (especially dorsa of hands and feet) 1 / 7739
19
 (OMIM) Pseudoainhum of toes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Kindler syndrome is an autosomal recessive dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling (summary by Jobard et al., 2003).
Clinical Description OMIM Kindler (1954) described an English girl with unusual congenital blistering of her hands and feet. Later in childhood, the patient developed reticulate erythema and diffuse cutaneous atrophy, beginning in sun-exposed areas. Her gums bled easily, and the skin ...
Molecular genetics OMIM In affected members of 4 consanguineous Kindler kindreds from North Africa, Jobard et al. (2003) characterized 4 homozygous mutations in the kindlerin (FERMT1) gene (607900.0001-607900.0004). Three of the 4 mutations were predicted to result in truncation of the ...