X-linked reticulate pigmentary disorder
| X-linked reticulate pigmentary disorder | |
|---|---|
| Classification and external resources | |
| OMIM | 301220 |
X-linked reticulate pigmentary disorder (also known as "Familial cutaneous amyloidosis,"[1] "Partington amyloidosis,"[1] "Partington cutaneous amyloidosis,"[1] "Partington syndrome type II,"[1] "Reticulate pigmentary disorder",[1] and "X-linked reticulate pigmentary disorder with systemic manifestations"[1]) is a cutaneous condition that has been described in adult women that had linear streaks of hyperpigmentation and in which male patients manifested a reticulated mottled brown pigmentation of the skin, which, on biopsy, demonstrated dermal deposits of amyloid.[1]
The syndrome is also referred with the acronym X-Linked-PDR or even XLPRD.
It's a very rare disease, genetically determined, with a chronic course.
The gene responsible for the disease has not yet been identified. It is expected to be in the range of Xp21-Xp22.[2]
It was characterized in 1981.[3]
Presentation
Affected males develop generalized reticular hyper pigmentation in early childhood. Hair often looks bedraggled or brushed backwards, hanging low on the forehead.
Among the associated extracutaneous manifestations are described:
- Respiratory infections
- Dyskeratosis corneal photophobia
- Hypohidrosis with large deficit of thermoregulation
- Growth retardation
- Gastrointestinal disorders
- Kidney disease
- Kidney stones
- Urinary infections
- Webbed feet or hands
- Electrolyte imbalance
- Retinitis pigmentosa
- Lymphoedema
- Thyroid abnormalities
Each patient shows some of the symptoms listed above. Not every sick person will show all of the listed symptoms.
In females the disease is characterized by skin rashes linear hyper pigmentation following the Blaschko's lines, morphologically similar to stage 3 pigment incontinence. There are no systemic manifestations associated with XLPDR in females.
See also
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 630. ISBN 1-4160-2999-0.
- ↑ Jaeckle Santos LJ, Xing C, Barnes RB et al. (June 2008). "Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes". Hum. Genet. 123 (5): 469–76. doi:10.1007/s00439-008-0498-4. PMC 2714970. PMID 18404279.
- ↑ Partington MW, Marriott PJ, Prentice RS, Cavaglia A, Simpson NE (1981). "Familial cutaneous amyloidosis with systemic manifestations in males". Am. J. Med. Genet. 10 (1): 65–75. doi:10.1002/ajmg.1320100109. PMID 6794369.