Palmoplantar keratoderma with deafness
{{Orphan|date=June 2022}}
{{Infobox medical condition
|name = Palmoplantar keratoderma with deafness
|synonyms = 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).{{cite web | url=https://rarediseases.org/gard-rare-disease/keratoderma-palmoplantar-deafness/ | title=Keratoderma palmoplantar deafness }}
|image =
|image_size =
|alt =
|image_thumbtime =
|caption =
|width =
|image2 =
|image_size2 =
|alt2 =
|image_thumbtime2 =
|caption2 =
|width2 =
|pronounce =
|pronounce 2 =
|specialty = Medical genetics, Dermatology
|symptoms = Mainly palmoplantar keratoderma and hearing loss
|complications = Hearing impairment
|onset = Early
|duration = Lifelong (but can be treated, especially the deafness part)
|types = Hereditary, focal, and Diffuse
|causes = Genetic mutation
|risks =
|diagnosis =
|differential =
|prevention = None
|treatment =
|medication =
|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.
Signs and symptoms
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.{{Cite web |title=Palmoplantar keratoderma with deafness: MedlinePlus Genetics |url=https://medlineplus.gov/genetics/condition/palmoplantar-keratoderma-with-deafness/ |access-date=2022-06-19 |website=medlineplus.gov |language=en}}{{Cite web |last=RESERVADOS |first=INSERM US14-- TODOS LOS DERECHOS |title=Orphanet: Palmoplantar keratoderma deafness syndrome Palmoplantar keratoderma hearing loss syndrome |url=https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=ES&data_id=2085&Disease_Disease_Search_diseaseGroup=palmoplantar-keratoderma&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Palmoplantar-keratoderma-deafness-syndrome--Palmoplantar-keratoderma-hearing-loss-syndrome-&title=Palmoplantar-keratoderma-deafness-syndrome--Palmoplantar-keratoderma-hearing-loss-syndrome-&search=Disease_Search_Simple |access-date=2022-06-19 |website=www.orpha.net |language=es}}
Treatment
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{{Cite web |title=Hearing loss - Diagnosis and treatment - Mayo Clinic |url=https://www.mayoclinic.org/diseases-conditions/hearing-loss/diagnosis-treatment/drc-20373077 |access-date=2022-06-19 |website=www.mayoclinic.org |language=en}}
- Palmoplantar keratoderma: Oilments, emolients, keratolytic agents, topical retinoids{{Cite web |title=Palmoplantar keratoderma {{!}} DermNet NZ |url=https://dermnetnz.org/topics/palmoplantar-keratoderma |access-date=2022-06-19 |website=dermnetnz.org}}
Causes
This condition is caused by autosomal dominant missense mutations of the GJB2 gene, located in the long arm of chromosome 13.{{Cite journal |last1=Heathcote |first1=Kirsten |last2=Syrris |first2=Petros |last3=Carter |first3=Nicholas D. |last4=Patton |first4=Michael A. |date=2000-01-01 |title=A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350) |url=https://jmg.bmj.com/content/37/1/50 |journal=Journal of Medical Genetics |language=en |volume=37 |issue=1 |pages=50–51 |doi=10.1136/jmg.37.1.50 |issn=0022-2593 |pmc=1734451 |pmid=10633135}}{{Cite journal |last1=Uyguner |first1=O |last2=Tukel |first2=T |last3=Baykal |first3=C |last4=Eris |first4=H |last5=Emiroglu |first5=M |last6=Hafiz |first6=G |last7=Ghanbari |first7=A |last8=Baserer |first8=N |last9=Yuksel-Apak |first9=M |last10=Wollnik |first10=B |date=October 2002 |title=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 |url=http://doi.wiley.com/10.1034/j.1399-0004.2002.620409.x |journal=Clinical Genetics |language=en |volume=62 |issue=4 |pages=306–309 |doi=10.1034/j.1399-0004.2002.620409.x|pmid=12372058 |s2cid=116847 |url-access=subscription }}{{Cite journal |last1=Zwart-Storm |first1=E. A. de |last2=Hamm |first2=H. |last3=Stoevesandt |first3=J. |last4=Steijlen |first4=P. M. |last5=Martin |first5=P. E. |last6=Geel |first6=M. van |last7=Steensel |first7=M. A. M. van |date=2008-03-01 |title=A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness |url=https://jmg.bmj.com/content/45/3/161 |journal=Journal of Medical Genetics |language=en |volume=45 |issue=3 |pages=161–166 |doi=10.1136/jmg.2007.052332 |issn=0022-2593 |pmid=17993581|s2cid=12114132 |url-access=subscription }}
Epidemiology
According to OMIM,{{Cite web |title=OMIM Entry - # 148350 - KERATODERMA, PALMOPLANTAR, WITH DEAFNESS |url=https://omim.org/entry/148350 |access-date=2022-06-19 |website=omim.org |language=en-us}} 4 families worldwide have been described with the disorder,{{Cite journal |last=Verbov |first=J. |date=June 1987 |title=Palmoplantar keratoderma, deafness and atopy |url=https://pubmed.ncbi.nlm.nih.gov/2956987/ |journal=The British Journal of Dermatology |volume=116 |issue=6 |pages=881–882 |doi=10.1111/j.1365-2133.1987.tb04914.x |issn=0007-0963 |pmid=2956987|s2cid=34974661 }}{{Cite journal |last1=Sharland |first1=M. |last2=Bleach |first2=N. R. |last3=Goberdhan |first3=P. D. |last4=Patton |first4=M. A. |date=January 1992 |title=Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations |journal=Journal of Medical Genetics |volume=29 |issue=1 |pages=50–52 |doi=10.1136/jmg.29.1.50 |issn=0022-2593 |pmc=1015822 |pmid=1532426}}{{Cite journal |last1=de Zwart-Storm |first1=E. A. |last2=Hamm |first2=H. |last3=Stoevesandt |first3=J. |last4=Steijlen |first4=P. M. |last5=Martin |first5=P. E. |last6=van Geel |first6=M. |last7=van Steensel |first7=M. a. M. |date=March 2008 |title=A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness |url=https://pubmed.ncbi.nlm.nih.gov/17993581/ |journal=Journal of Medical Genetics |volume=45 |issue=3 |pages=161–166 |doi=10.1136/jmg.2007.052332 |issn=1468-6244 |pmid=17993581|s2cid=12114132 }} although other sources say there are 10 families.{{Cite web |title=Palmoplantar keratoderma with deafness: MedlinePlus Genetics |url=https://medlineplus.gov/genetics/condition/palmoplantar-keratoderma-with-deafness/ |access-date=2022-06-19 |website=medlineplus.gov |language=en}} An exact number of cases cannot be said for certain, since most case reports don't specify them.
References
{{reflist}}