| Palmoplantar keratoderma with deafness | |
|---|---|
| Other names | Keratoderma palmoplantar, with deafness, Palmoplantar keratoderma and sensorineural deafness, Hereditary palmoplantar keratoderma with deafness (subtype), Focal palmoplantar keratoderma with sensorineural deafness (subtype), Diffuse palmoplantar keratoderma with deafness (subtype). [1] |
| Specialty | Medical genetics, Dermatology |
| Symptoms | Mainly palmoplantar keratoderma and hearing loss |
| Complications | Hearing impairment |
| Usual onset | Early |
| Duration | Lifelong (but can be treated, especially the deafness part) |
| Types | Hereditary, focal, and Diffuse |
| Causes | Genetic mutation |
| Prevention | None |
| Prognosis | Good to Medium |
| Frequency | rare |
| Deaths | - |
Palmoplantar keratoderma with deafness, also known as Palmoplantar keratoderma-deafness syndrome is a rare genetic disorder which is characterized by either focal or diffuse early-onset palmoplantar keratoderma and sensorineural deafness. Transmission is autosomal dominant with incomplete penetrance.
Individuals with this condition usually have palmoplantar keratoderma of the thenars, hypothenars, and the foot arch. These symptoms usually start in early-late infancy which is accompanied by deafness of variable onset. [2] [3]
Usually, the basic forms of treatment of both deafness and palmoplantar keratoderma are combined, that is, used at the same time, to treat PKD, these include:
- Deafness: Surgery, hearing aids, cochlear implant [4]
- Palmoplantar keratoderma: Oilments, emolients, keratolytic agents, topical retinoids [5]
This condition is caused by autosomal dominant missense mutations of the GJB2 gene, located in the long arm of chromosome 13. [6] [7] [8]
According to OMIM, [9] 4 families worldwide have been described with the disorder, [10] [11] [12] although other sources say there are 10 families. [13] An exact number of cases cannot be said for certain, since most case reports don't specify them.
- ^ "Keratoderma palmoplantar deafness".
- ^ "Palmoplantar keratoderma with deafness: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-06-19.
-
^ RESERVADOS, INSERM US14-- TODOS LOS DERECHOS.
"Orphanet: Palmoplantar keratoderma deafness syndrome Palmoplantar keratoderma hearing loss syndrome". www.orpha.net (in Spanish). Retrieved 2022-06-19.
{{ cite web}}: CS1 maint: numeric names: authors list ( link) - ^ "Hearing loss - Diagnosis and treatment - Mayo Clinic". www.mayoclinic.org. Retrieved 2022-06-19.
- ^ "Palmoplantar keratoderma | DermNet NZ". dermnetnz.org. Retrieved 2022-06-19.
- ^ Heathcote, Kirsten; Syrris, Petros; Carter, Nicholas D.; Patton, Michael A. (2000-01-01). "A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)". Journal of Medical Genetics. 37 (1): 50–51. doi: 10.1136/jmg.37.1.50. ISSN 0022-2593. PMC 1734451. PMID 10633135.
- ^ Uyguner, O; Tukel, T; Baykal, C; Eris, H; Emiroglu, M; Hafiz, G; Ghanbari, A; Baserer, N; Yuksel-Apak, M; Wollnik, B (October 2002). "The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family: A GJB2 mutation causes deafness and PPK". Clinical Genetics. 62 (4): 306–309. doi: 10.1034/j.1399-0004.2002.620409.x. PMID 12372058. S2CID 116847.
- ^ Zwart-Storm, E. A. de; Hamm, H.; Stoevesandt, J.; Steijlen, P. M.; Martin, P. E.; Geel, M. van; Steensel, M. A. M. van (2008-03-01). "A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness". Journal of Medical Genetics. 45 (3): 161–166. doi: 10.1136/jmg.2007.052332. ISSN 0022-2593. PMID 17993581. S2CID 12114132.
- ^ "OMIM Entry - # 148350 - KERATODERMA, PALMOPLANTAR, WITH DEAFNESS". omim.org. Retrieved 2022-06-19.
- ^ Verbov, J. (June 1987). "Palmoplantar keratoderma, deafness and atopy". The British Journal of Dermatology. 116 (6): 881–882. doi: 10.1111/j.1365-2133.1987.tb04914.x. ISSN 0007-0963. PMID 2956987. S2CID 34974661.
- ^ Sharland, M.; Bleach, N. R.; Goberdhan, P. D.; Patton, M. A. (January 1992). "Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations". Journal of Medical Genetics. 29 (1): 50–52. doi: 10.1136/jmg.29.1.50. ISSN 0022-2593. PMC 1015822. PMID 1532426.
- ^ de Zwart-Storm, E. A.; Hamm, H.; Stoevesandt, J.; Steijlen, P. M.; Martin, P. E.; van Geel, M.; van Steensel, M. a. M. (March 2008). "A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness". Journal of Medical Genetics. 45 (3): 161–166. doi: 10.1136/jmg.2007.052332. ISSN 1468-6244. PMID 17993581. S2CID 12114132.
- ^ "Palmoplantar keratoderma with deafness: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-06-19.
| Palmoplantar keratoderma with deafness | |
|---|---|
| Other names | Keratoderma palmoplantar, with deafness, Palmoplantar keratoderma and sensorineural deafness, Hereditary palmoplantar keratoderma with deafness (subtype), Focal palmoplantar keratoderma with sensorineural deafness (subtype), Diffuse palmoplantar keratoderma with deafness (subtype). [1] |
| Specialty | Medical genetics, Dermatology |
| Symptoms | Mainly palmoplantar keratoderma and hearing loss |
| Complications | Hearing impairment |
| Usual onset | Early |
| Duration | Lifelong (but can be treated, especially the deafness part) |
| Types | Hereditary, focal, and Diffuse |
| Causes | Genetic mutation |
| Prevention | None |
| Prognosis | Good to Medium |
| Frequency | rare |
| Deaths | - |
Palmoplantar keratoderma with deafness, also known as Palmoplantar keratoderma-deafness syndrome is a rare genetic disorder which is characterized by either focal or diffuse early-onset palmoplantar keratoderma and sensorineural deafness. Transmission is autosomal dominant with incomplete penetrance.
Individuals with this condition usually have palmoplantar keratoderma of the thenars, hypothenars, and the foot arch. These symptoms usually start in early-late infancy which is accompanied by deafness of variable onset. [2] [3]
Usually, the basic forms of treatment of both deafness and palmoplantar keratoderma are combined, that is, used at the same time, to treat PKD, these include:
- Deafness: Surgery, hearing aids, cochlear implant [4]
- Palmoplantar keratoderma: Oilments, emolients, keratolytic agents, topical retinoids [5]
This condition is caused by autosomal dominant missense mutations of the GJB2 gene, located in the long arm of chromosome 13. [6] [7] [8]
According to OMIM, [9] 4 families worldwide have been described with the disorder, [10] [11] [12] although other sources say there are 10 families. [13] An exact number of cases cannot be said for certain, since most case reports don't specify them.
- ^ "Keratoderma palmoplantar deafness".
- ^ "Palmoplantar keratoderma with deafness: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-06-19.
-
^ RESERVADOS, INSERM US14-- TODOS LOS DERECHOS.
"Orphanet: Palmoplantar keratoderma deafness syndrome Palmoplantar keratoderma hearing loss syndrome". www.orpha.net (in Spanish). Retrieved 2022-06-19.
{{ cite web}}: CS1 maint: numeric names: authors list ( link) - ^ "Hearing loss - Diagnosis and treatment - Mayo Clinic". www.mayoclinic.org. Retrieved 2022-06-19.
- ^ "Palmoplantar keratoderma | DermNet NZ". dermnetnz.org. Retrieved 2022-06-19.
- ^ Heathcote, Kirsten; Syrris, Petros; Carter, Nicholas D.; Patton, Michael A. (2000-01-01). "A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)". Journal of Medical Genetics. 37 (1): 50–51. doi: 10.1136/jmg.37.1.50. ISSN 0022-2593. PMC 1734451. PMID 10633135.
- ^ Uyguner, O; Tukel, T; Baykal, C; Eris, H; Emiroglu, M; Hafiz, G; Ghanbari, A; Baserer, N; Yuksel-Apak, M; Wollnik, B (October 2002). "The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family: A GJB2 mutation causes deafness and PPK". Clinical Genetics. 62 (4): 306–309. doi: 10.1034/j.1399-0004.2002.620409.x. PMID 12372058. S2CID 116847.
- ^ Zwart-Storm, E. A. de; Hamm, H.; Stoevesandt, J.; Steijlen, P. M.; Martin, P. E.; Geel, M. van; Steensel, M. A. M. van (2008-03-01). "A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness". Journal of Medical Genetics. 45 (3): 161–166. doi: 10.1136/jmg.2007.052332. ISSN 0022-2593. PMID 17993581. S2CID 12114132.
- ^ "OMIM Entry - # 148350 - KERATODERMA, PALMOPLANTAR, WITH DEAFNESS". omim.org. Retrieved 2022-06-19.
- ^ Verbov, J. (June 1987). "Palmoplantar keratoderma, deafness and atopy". The British Journal of Dermatology. 116 (6): 881–882. doi: 10.1111/j.1365-2133.1987.tb04914.x. ISSN 0007-0963. PMID 2956987. S2CID 34974661.
- ^ Sharland, M.; Bleach, N. R.; Goberdhan, P. D.; Patton, M. A. (January 1992). "Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations". Journal of Medical Genetics. 29 (1): 50–52. doi: 10.1136/jmg.29.1.50. ISSN 0022-2593. PMC 1015822. PMID 1532426.
- ^ de Zwart-Storm, E. A.; Hamm, H.; Stoevesandt, J.; Steijlen, P. M.; Martin, P. E.; van Geel, M.; van Steensel, M. a. M. (March 2008). "A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness". Journal of Medical Genetics. 45 (3): 161–166. doi: 10.1136/jmg.2007.052332. ISSN 1468-6244. PMID 17993581. S2CID 12114132.
- ^ "Palmoplantar keratoderma with deafness: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-06-19.