Kindler syndrome
| Kindler syndrome | |
|---|---|
| Other names | Congenital poikiloderma with blisters and keratoses,[1] Congenital poikiloderma with bullae and progressive cutaneous atrophy,[1] Hereditary acrokeratotic poikiloderma,[1] Hyperkeratosis–hyperpigmentation syndrome,[2]: 511 Acrokeratotic poikiloderma, Weary–Kindler syndrome[3]: 558 |
 | |
| Kindler syndrome has an autosomal recessive pattern of inheritance. | |
| Specialty | Medical genetics, dermatology  |
Kindler syndrome (also known as "bullous acrokeratotic poikiloderma of Kindler and Weary"
Symptoms and signs
Infants and young children with Kindler syndrome have a tendency to blister with minor trauma and are prone to sunburns. As individuals with Kindler syndrome age, they tend to have fewer problems with blistering and photosensitivity. However, pigment changes and thinning of the skin become more prominent.[4] Kindler syndrome can affect various mucous tissues such as the mouth and eyes, which can lead to other health problems.[5]
Genetics
Kindler syndrome is an
Diagnosis
Clinical and genetic tests are used to confirm diagnosis.[5]
Management
Treatment may involve several different types of practitioner to address the various manifestations that may occur. This multidisciplinary team will also be involved in preventing secondary complications.[8]
See also
- Rothmund–Thomson syndrome
- Epidermolysis bullosa
- List of cutaneous conditions
References
- ^ ISBN 978-1-4160-2999-1.
- ISBN 0-07-138076-0.
- ISBN 0-7216-2921-0.
- S2CID 221861310.
- ^ a b "Kindler syndrome". Genetics Home Reference. NIH. Retrieved November 18, 2018.
- PMID 12789646.
- S2CID 22888894.
- PMID 26937547.