5 Inherited Skin Problems


1
Mal de Maleda
Mal de Maleda was named after the island of Maleda, off the coast of Croatia, where the condition was first documented.
Mal de Maleda was named after the island of Maleda, off the coast of Croatia, where the condition was first documented.
Adam Jones/Getty Images

As far as genodermatoses go, Mal de Maleda is one of the rarer types. This inherited skin disorder is found mainly among people of Mediterranean descent, and was named for the island of Maleda, located near Croatia, where the first cases were documented [source: Goldsmith].

The disorder is a variation of keratosis palmaris et plantaris, a more prevalent type of skin disorder characterized by a thickening of the skin on the palms of the hands and the soles of the feet. This increase in size is the result of an enlargement in the size of the skin cells. This, in turn, leads to an enlargement of the palms and the soles, and also gives them a yellowish hue [source: Wrong Diagnosis].

Since Mal de Maleda is a rare genodermatosis, it's not surprising that it's also an autosomal recessive disorder. This means that two copies of the mutated gene must be contributed, one from each parent.

The SLURP1 gene, which is responsible for encoding the proteins that form the binding between cells, has been identified as the culprit behind Mal de Maleda [source: Spitz].

Related Articles

Sources

  • American Porphyria Foundation. "Porphyria cutanea tarda (PCT)." Accessed May 25, 2010.http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/PCT
  • Goldsmith, Lowell A. "Slurping across the mare nostrum." Journal of Investigative Dermatology. 2003.http://www.nature.com/jid/journal/v120/n3/full/5603368a.html
  • Kwok, Pui-Yan, MD, PhD. "Keratosis follicularis (Darier disease)." eMedicine. May 14, 2010.http://emedicine.medscape.com/article/1107340-overview
  • Macnair, Dr. Trisha. "What is porphyria?" Accessed May 25, 2010.http://www.bbc.co.uk/health/physical_health/conditions/porphyria1.shtml
  • Marinkovich, M Peter. "Epidermolysis bullosa." eMedicine. November 30, 2009.http://emedicine.medscape.com/article/1062939-overview
  • Mayo Clinic. "Epidermolysis bullosa." September 26, 2009http://www.mayoclinic.com/health/epidermolysis-bullosa/DS01015.
  • Mayo Clinic. "Ichthyosis vulgaris." April 8, 2010.http://www.mayoclinic.com/health/ichthyosis-vulgaris/DS00734/DSECTION%3Dsymptoms
  • Mayo Clinic. "Porphyria." April 8, 2010.http://www.mayoclinic.com/health/porphyria/DS00955
  • National Cancer Institute. "Study of scaling disorders and other inherited skin diseases." Clinical
  • Trials.gov. November 30, 1999.http://clinicaltrials.gov/ct2/show/NCT00001292
  • Spitz, Joel H. "Genodermatoses: a clinical guide to genetic skin disorders."
  • The Biology Project. "Cell membranes problem set." University of Arizona. August 2004.http://www.biology.arizona.edu/cell_bio/problem_sets/membranes/13t.html
  • WebMD. "Ichthyosis, lamellar." March 9, 2010.http://www.webmd.com/skin-problems-and-treatments/ichthyosis-lamellar-nord
  • Wrong Diagnosis. "Keratosis palmaris et plantaris." Accessed May 25, 2010.http://www.wrongdiagnosis.com/medical/keratosis_palmaris_et_plantaris.htm

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