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X-linked reticulate pigmentary disorder with systemic manifestations

General Information (adopted from Orphanet):

Synonyms, Signs:	AMYLOIDOSIS, FAMILIAL CUTANEOUS XLPDR PDR Familial cutaneous amyloidosis X-linked cutaneous amyloidosis Partington disease
Number of Symptoms	22
OrphanetNr:	85453
OMIM Id:	301220
ICD-10:	E85.0+ L99.0*
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases:

Genetic hyperpigmentation of the skin
-Rare genetic disease
Rare genetic systemic or rheumatologic disease
-Rare genetic disease
Rare systemic disease
-Rare systemic or rheumatologic disease
Syndromic corneal dystrophy
-Rare eye disease
-Rare genetic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	DB Freq
1	(HPO:0012227)	Urethral stricture	5 / 7739
2	(HPO:0000572)	Visual loss	272 / 7739
3	(HPO:0007759)	Opacification of the corneal stroma	77 / 7739
4	(HPO:0007957)	Corneal opacity	84 / 7739
5	(HPO:0002301)	Hemiplegia	42 / 7739
6	(HPO:0001263)	Global developmental delay	853 / 7739
7	(HPO:0001250)	Seizures	1245 / 7739
8	(HPO:0000023)	Inguinal hernia	181 / 7739
9	(HPO:0004798)	Recurrent infection of the gastrointestinal tract	9 / 7739
10	(HPO:0001531)	Failure to thrive in infancy	26 / 7739
11	(HPO:0007599)	Generalized reticulate brown pigmentation	1 / 7739
12	(HPO:0011034)	Amyloidosis	12 / 7739
13	(HPO:0001939)	Abnormality of metabolism/homeostasis	328 / 7739
14	(HPO:0006532)	Recurrent pneumonia	48 / 7739
15	(HPO:0001417)	X-linked inheritance	173 / 7739
16	(OMIM)	Bloody stools	1 / 7739
17	(MedDRA:10017888)	[DEL]Gastroenteritis	3 / 7739
18	(OMIM)	Amyloid deposits in the papillary dermis, melanin in the basal layer, and slight hyperkeratosis	1 / 7739
19	(OMIM)	Brown skin pigmentation in females like incontinentia pigmenti	1 / 7739
20	(OMIM)	Generalized reticulate brown pigmentation in males	1 / 7739
21	(OMIM)	Near-blindness	1 / 7739
22	(OMIM)	Failure to thrive in male infants	1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Partington et al. (1981) described a large Canadian family in which 2 males and 7 females had brown pigmentation of the skin. In the females, the type and distribution of the pigmentation mimicked incontinentia pigmenti; in the males, ... Partington et al. (1981) described a large Canadian family in which 2 males and 7 females had brown pigmentation of the skin. In the females, the type and distribution of the pigmentation mimicked incontinentia pigmenti; in the males, the pattern was generalized and reticulate. In both sexes, histologic studies showed amyloid deposits in the papillary dermis, melanin in the basal layer, and slight hyperkeratosis. The females were otherwise normal. Both males failed to thrive as infants. One had severe gastroenteritis with blood in the stools starting at the age of 3 weeks, followed by seizures, hemiplegia and developmental delay. The other had recurrent pneumonia, urethral stricture, inguinal hernias, and near-blindness from amyloid deposits in the cornea. Five other males in the family had had severe illnesses. Two died of pneumonia by age 3 months. One died at 3 months of colitis. Two had colitis as infants, failed to thrive, and developed recurrent pneumonia from which 1 died at age 3 years. Partington and Prentice (1989) provided follow-up. The early life of most of the affected boys was marked by ulcerative colitis (see 266600), failure to thrive, and pneumonia from which several had perished in the earlier generations. With improved management, affected males survived and some developed other manifestations such as corneal dystrophy with severe photophobia or chronic respiratory disease. Whereas amyloid deposits were originally found in the pigmented skin of adults of both sexes, later studies failed to show amyloid in the skin of the affected children, suggesting that its deposition may be an age-dependent secondary change. Ades et al. (1993) described another family of Maltese origin and renamed the condition X-linked reticulate pigmentary disorder with systemic manifestations, abbreviated PDR. Megarbane et al. (2005) reported a boy, born to healthy first-cousin parents, with diffuse hyperpigmentation of the skin and guttate hypomelanotic lesions, photophobia, abnormal hair, developmental delay, and recurrent bronchitis. Skin histology showed pigmentation incontinence with numerous melanophages; electron microscopy showed a very high number of melanosomes and some degenerating keratinocytes. Dermatologic examination of the mother was normal, and skewed X-inactivation patterns were detected in her lymphocytes. Megarbane et al. (2005) suggested that the involved gene may play a critical role in embryonic development.

Symptoms & Signs

	Field	Query
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