U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

X-linked reticulate pigmentary disorder(PDR)

MedGen UID:
336844
Concept ID:
C1845050
Disease or Syndrome
Synonym: Pigmentary disorder, reticulate, with systemic manifestations, X-linked
SNOMED CT: X-linked reticulate pigmentary disorder with systemic manifestation syndrome (717224002); Partington disease (717224002)
Modes of inheritance:
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
 
Gene (location): POLA1 (Xp22.11-21.3)
 
Monarch Initiative: MONDO:0010523
OMIM®: 301220
Orphanet: ORPHA85453

Definition

X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016). [from OMIM]

Clinical features

From HPO
Urethral stricture
MedGen UID:
1641821
Concept ID:
C4551691
Pathologic Function
Narrowing of the urethra associated with inflammation or scar tissue.
Clubbing
MedGen UID:
57692
Concept ID:
C0149651
Anatomical Abnormality
Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
Failure to thrive in infancy
MedGen UID:
358083
Concept ID:
C1867873
Finding
Colitis
MedGen UID:
40385
Concept ID:
C0009319
Disease or Syndrome
Ulcerative colitis is a chronic disorder that affects the digestive system. This condition is characterized by abnormal inflammation of the inner surface (epithelium) of the rectum and colon. The rectum and colon make up most of the length of the large intestine. The inflammation usually causes open sores (ulcers) to develop in the large intestine. Ulcerative colitis usually appears between the age of 15 and 30, although it can develop at any age. The inflammation tends to flare up multiple times throughout a person's life, which causes recurring signs and symptoms.\n\nThe most common symptoms of ulcerative colitis are cramping abdominal pain and frequent diarrhea, often with blood, pus, or mucus in the stool. Other signs and symptoms include nausea, loss of appetite, bowel urgency, fatigue, and fevers. Chronic bleeding from the inflamed and ulcerated intestinal tissue can cause a shortage of red blood cells (anemia) in some affected individuals. People with this disorder have difficulty absorbing enough fluids and nutrients from their diet and often experience weight loss. Affected children usually grow more slowly than normal. Less commonly, ulcerative colitis causes problems with the skin, joints, eyes, kidneys, or liver, which are most likely due to abnormal inflammation.\n\nToxic megacolon is a rare complication of ulcerative colitis that can be life-threatening. Toxic megacolon involves a widening (dilation) of the colon and an overwhelming inflammatory response. Ulcerative colitis also increases the risk of developing colon cancer, especially in people whose entire colon is inflamed and in those who have had ulcerative colitis for 8 years or more.\n\nUlcerative colitis is one common form of inflammatory bowel disease (IBD). Another type of IBD, Crohn's disease, also causes chronic inflammation of the intestines. Unlike ulcerative colitis, which affects only the inner surface of the large intestine, Crohn's disease can cause inflammation in any part of the digestive system, and the inflammation extends deeper into the intestinal tissue.
Chronic diarrhea
MedGen UID:
96036
Concept ID:
C0401151
Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Corneal scarring
MedGen UID:
83899
Concept ID:
C0349702
Finding
Replacement of corneal tissue with scar tissue as a result of injury to the deeper layers of the cornea.
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Increased circulating interleukin 8 concentration
MedGen UID:
1752541
Concept ID:
C5421665
Finding
An increased concentration of interleukin-8 in the circulation.
Reduced circulating interferon gamma concentration
MedGen UID:
1787577
Concept ID:
C5539459
Finding
A reduction in the concentration of interferon gamma measured in the blood circulation.
Cutaneous amyloidosis
MedGen UID:
1830283
Concept ID:
C5779562
Disease or Syndrome
The presence of amyloid deposition in the superficial dermis.
Broad eyebrow
MedGen UID:
344657
Concept ID:
C1856121
Finding
Regional increase in the width (height) of the eyebrow.
Hypohidrosis
MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
Abnormally diminished capacity to sweat.
Cutis marmorata
MedGen UID:
78093
Concept ID:
C0263401
Disease or Syndrome
A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Frontal upsweep of hair
MedGen UID:
452910
Concept ID:
C1185616
Finding
Upward and/or sideward growth of anterior hair.
Reticular hyperpigmentation
MedGen UID:
338832
Concept ID:
C1851972
Finding
Increased pigmentation of the skin with a netlike (reticular) pattern.
Generalized reticulate brown pigmentation
MedGen UID:
870391
Concept ID:
C4024836
Finding
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Visual loss
MedGen UID:
784038
Concept ID:
C3665386
Finding
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked reticulate pigmentary disorder
Follow this link to review classifications for X-linked reticulate pigmentary disorder in Orphanet.

Recent clinical studies

Etiology

Lin MH, Chou PC, Lee IC, Yang SF, Yu HS, Yu S
Genes (Basel) 2023 Jun 20;14(6) doi: 10.3390/genes14061300. PMID: 37372478Free PMC Article
Yu ZX, Song HM
World J Pediatr 2020 Feb;16(1):44-51. Epub 2019 Aug 3 doi: 10.1007/s12519-019-00273-z. PMID: 31377974
Zhang J, Li M, Yao Z
Br J Dermatol 2017 Oct;177(4):945-959. Epub 2017 Sep 27 doi: 10.1111/bjd.15575. PMID: 28407215

Diagnosis

Li XY, Ma DL
JAMA Dermatol 2023 Dec 1;159(12):1383-1384. doi: 10.1001/jamadermatol.2023.2980. PMID: 37851432
Zhang J, Li M, Yao Z
Br J Dermatol 2017 Oct;177(4):945-959. Epub 2017 Sep 27 doi: 10.1111/bjd.15575. PMID: 28407215
Pezzani L, Brena M, Callea M, Colombi M, Tadini G
Am J Med Genet A 2013 Jun;161A(6):1414-20. Epub 2013 Apr 23 doi: 10.1002/ajmg.a.35882. PMID: 23613254
Anderson RC, Zinn AR, Kim J, Carder KR
Pediatr Dermatol 2005 Mar-Apr;22(2):122-6. doi: 10.1111/j.1525-1470.2005.22206.x. PMID: 15804299
Schnur RE, Heymann WR
Semin Cutan Med Surg 1997 Mar;16(1):72-80. doi: 10.1016/s1085-5629(97)80038-7. PMID: 9125768

Therapy

Yu ZX, Song HM
World J Pediatr 2020 Feb;16(1):44-51. Epub 2019 Aug 3 doi: 10.1007/s12519-019-00273-z. PMID: 31377974
Schnur RE, Heymann WR
Semin Cutan Med Surg 1997 Mar;16(1):72-80. doi: 10.1016/s1085-5629(97)80038-7. PMID: 9125768

Prognosis

Zhang J, Li M, Yao Z
Br J Dermatol 2017 Oct;177(4):945-959. Epub 2017 Sep 27 doi: 10.1111/bjd.15575. PMID: 28407215

Clinical prediction guides

Kim BS, Seo SH, Jung HD, Kwon KS, Kim MB
Int J Dermatol 2010 Apr;49(4):421-5. doi: 10.1111/j.1365-4632.2010.04102.x. PMID: 20465698
Fraile G, Norman F, Reguero ME, Defargues V, Redondo C
Scand J Gastroenterol 2008;43(4):506-10. doi: 10.1080/03014460701723912. PMID: 18365917
Gedeon AK, Mulley JC, Kozman H, Donnelly A, Partington MW
Am J Med Genet 1994 Aug 1;52(1):75-8. doi: 10.1002/ajmg.1320520115. PMID: 7977467
Adès LC, Rogers M, Sillence DO
Pediatr Dermatol 1993 Dec;10(4):344-51. doi: 10.1111/j.1525-1470.1993.tb00396.x. PMID: 8302737

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...