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Cutaneous porphyria(CEP)

MedGen UID:
102408
Concept ID:
C0162530
Disease or Syndrome
Synonyms: CEP; Congenital erythropoietic porphyria; Congenital porphyria; GUNTHER DISEASE; Günther disease; Porphyria, Erythropoietic; UROPORPHYRINOGEN III SYNTHASE DEFICIENCY; Uroporphyrinogen III synthase, deficiency of
SNOMED CT: Erythropoietic porphyria (67312003); CEP - Congenital erythropoietic porphyria (22935002); Congenital porphyria (190913009); Congenital erythropoietic porphyria (22935002); Gunther's disease (22935002); Congenital photosensitive porphyria (22935002); Hematoporphyria congenita (22935002); Porphyria erythropoietica (22935002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): UROS (10q26.2)
 
Monarch Initiative: MONDO:0009902
OMIM®: 263700
Orphanet: ORPHA79277

Disease characteristics

Excerpted from the GeneReview: Congenital Erythropoietic Porphyria
Congenital erythropoietic porphyria (CEP) is characterized in most individuals by severe cutaneous photosensitivity with blistering and increased friability of the skin over light-exposed areas. Onset in most affected individuals occurs at birth or early infancy. The first manifestation is often pink-to-dark red discoloration of the urine. Hemolytic anemia is common and can range from mild to severe, with some affected individuals requiring chronic blood transfusions. Porphyrin deposition may lead to corneal ulcers and scarring, reddish-brown discoloration of the teeth (erythrodontia), and bone loss and/or expansion of the bone marrow. The phenotypic spectrum, however, is broad and ranges from nonimmune hydrops fetalis in utero to late-onset disease with only mild cutaneous manifestations in adulthood. [from GeneReviews]
Authors:
Angelika Erwin  |  Manisha Balwani  |  Robert J Desnick, et. al.   view full author information

Additional descriptions

From OMIM
The porphyrias are diseases caused by defects in heme synthesis, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver (Gross et al., 2000). Desnick and Astrin (2002) provided a comprehensive review of congenital erythropoietic porphyria pathogenesis and treatment. One patient with a phenotype suggestive of congenital erythropoietic anemia was found to have a mutation in the GATA1 gene (305371.0010) that affected UROS expression (see XLTT, 314050).  http://www.omim.org/entry/263700
From MedlinePlus Genetics
Environmental factors can strongly influence the occurrence and severity of signs and symptoms of porphyria. Alcohol, smoking, certain drugs, hormones, other illnesses, stress, and dieting or periods without food (fasting) can all trigger the signs and symptoms of some forms of the disorder. Additionally, exposure to sunlight worsens the skin damage in people with cutaneous porphyrias.

The porphyrias can also be split into erythropoietic and hepatic types, depending on where damaging compounds called porphyrins and porphyrin precursors first build up in the body. In erythropoietic porphyrias, these compounds originate in the bone marrow. Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria. Health problems associated with erythropoietic porphyrias include a low number of red blood cells (anemia) and enlargement of the spleen (splenomegaly). The other types of porphyrias are considered hepatic porphyrias. In these disorders, porphyrins and porphyrin precursors originate primarily in the liver, leading to abnormal liver function and an increased risk of developing liver cancer.

Other types of porphyria, called acute porphyrias, primarily affect the nervous system. These disorders are described as "acute" because their signs and symptoms appear quickly and usually last a short time. Episodes of acute porphyria can cause abdominal pain, vomiting, constipation, and diarrhea. During an episode, a person may also experience muscle weakness, seizures, fever, and mental changes such as anxiety and hallucinations. These signs and symptoms can be life-threatening, especially if the muscles that control breathing become paralyzed. Acute porphyrias include acute intermittent porphyria and ALAD deficiency porphyria. Two other forms of porphyria, hereditary coproporphyria and variegate porphyria, can have both acute and cutaneous symptoms.

Researchers have identified several types of porphyria, which are distinguished by their genetic cause and their signs and symptoms. Some types of porphyria, called cutaneous porphyrias, primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda.

Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).  https://medlineplus.gov/genetics/condition/porphyria

Clinical features

From HPO
Red urine
MedGen UID:
910906
Concept ID:
C0858862
Finding
An abnormal red color of the urine.
Pink urine
MedGen UID:
376643
Concept ID:
C1849715
Finding
An abnormal pink color of urine.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Cholelithiasis
MedGen UID:
3039
Concept ID:
C0008350
Disease or Syndrome
Hard, pebble-like deposits that form within the gallbladder.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Increased fecal coproporphyrin 1
MedGen UID:
1719205
Concept ID:
C5397995
Finding
Abnormally high concentration of coproporphyrin 1 in feces.
Hemolytic anemia
MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Pathologic fracture
MedGen UID:
42095
Concept ID:
C0016663
Pathologic Function
A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Finding
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Vertebral compression fracture
MedGen UID:
75497
Concept ID:
C0262431
Finding
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.
Atypical scarring of skin
MedGen UID:
867415
Concept ID:
C4021786
Pathologic Function
Atypically scarred skin .
Osteolysis
MedGen UID:
1648424
Concept ID:
C4721411
Pathologic Function
Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.
Conjunctivitis
MedGen UID:
1093
Concept ID:
C0009763
Disease or Syndrome
Inflammation of the conjunctiva.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Elevated circulating uroporphyrin concentration
MedGen UID:
1842099
Concept ID:
C5826755
Finding
Concentration of uroporphyrin in the blood circulation above the upper limit of normal.
Absent eyebrow
MedGen UID:
98133
Concept ID:
C0431448
Congenital Abnormality
Absence of the eyebrow.
Erythrodontia
MedGen UID:
901544
Concept ID:
C4280783
Finding
Reddish, brown opalescent discoloration of teeth in normal light.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Scleroderma
MedGen UID:
3770
Concept ID:
C0011644
Disease or Syndrome
A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.
Hypertrichosis
MedGen UID:
43787
Concept ID:
C0020555
Disease or Syndrome
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Hyperpigmentation of the skin
MedGen UID:
57992
Concept ID:
C0162834
Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
Hypopigmentation of the skin
MedGen UID:
102477
Concept ID:
C0162835
Disease or Syndrome
A reduction of skin color related to a decrease in melanin production and deposition.
Thickened skin
MedGen UID:
66024
Concept ID:
C0241165
Finding
Laminar thickening of skin.
Cutaneous photosensitivity
MedGen UID:
87601
Concept ID:
C0349506
Pathologic Function
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
Loss of eyelashes
MedGen UID:
1390509
Concept ID:
C4316878
Finding
This term refers to the loss of eyelashes that were previously present.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCutaneous porphyria
Follow this link to review classifications for Cutaneous porphyria in Orphanet.

Professional guidelines

PubMed

Dickey AK, Naik H, Keel SB, Levy C, Beaven SW, Elmariah SB, Erwin AL, Goddu RJ, Hedstrom K, Leaf RK, Kazamel M, Mazepa M, Philpotts LL, Quigley J, Raef H, Rudnick SR, Saberi B, Thapar M, Ungar J, Wang B, Balwani M; Porphyrias Consortium of the Rare Diseases Clinical Research Network
J Am Acad Dermatol 2023 Dec;89(6):1227-1237. Epub 2022 Aug 27 doi: 10.1016/j.jaad.2022.08.036. PMID: 36041558Free PMC Article
Woolf J, Marsden JT, Degg T, Whatley S, Reed P, Brazil N, Stewart MF, Badminton M
Ann Clin Biochem 2017 Mar;54(2):188-198. Epub 2017 Jan 19 doi: 10.1177/0004563216667965. PMID: 27555665
Hunter GA, Donald GF
Australas J Dermatol 1977 Apr;18(1):1-3. doi: 10.1111/j.1440-0960.1977.tb00724.x. PMID: 883916

Curated

Orphanet emergency guideline: Cutaneous porphyrias, 2007

Recent clinical studies

Etiology

Edel Y, Mamet R, Snast I, Kaftory R, Mazor S, Hodak E, Lapidoth M, Elis A, Molad Y, Levi A
J Eur Acad Dermatol Venereol 2020 Jan;34(1):184-187. Epub 2019 Jul 16 doi: 10.1111/jdv.15769. PMID: 31264284
Arora S, Young S, Kodali S, Singal AK
Indian J Gastroenterol 2016 Nov;35(6):405-418. Epub 2016 Oct 31 doi: 10.1007/s12664-016-0698-0. PMID: 27796941
Schulenburg-Brand D, Katugampola R, Anstey AV, Badminton MN
Dermatol Clin 2014 Jul;32(3):369-84, ix. Epub 2014 May 5 doi: 10.1016/j.det.2014.03.001. PMID: 24891059
Kotrulja L, Ozanić-Bulić S, Sjerobabski-Masnec I, Situm M, Poduje S
Coll Antropol 2010 Apr;34 Suppl 2:263-6. PMID: 21302730
Murphy GM
Br J Dermatol 1999 Apr;140(4):573-81. doi: 10.1046/j.1365-2133.1999.02754.x. PMID: 10233305

Diagnosis

Lefever S, Peersman N, Meersseman W, Cassiman D, Vermeersch P
J Inherit Metab Dis 2022 Nov;45(6):1151-1162. Epub 2022 Aug 26 doi: 10.1002/jimd.12545. PMID: 36053909
Wick MR
Semin Diagn Pathol 2017 May;34(3):250-260. Epub 2016 Dec 14 doi: 10.1053/j.semdp.2016.12.001. PMID: 28108048
Arora S, Young S, Kodali S, Singal AK
Indian J Gastroenterol 2016 Nov;35(6):405-418. Epub 2016 Oct 31 doi: 10.1007/s12664-016-0698-0. PMID: 27796941
Schulenburg-Brand D, Katugampola R, Anstey AV, Badminton MN
Dermatol Clin 2014 Jul;32(3):369-84, ix. Epub 2014 May 5 doi: 10.1016/j.det.2014.03.001. PMID: 24891059
Elder GH
Semin Dermatol 1990 Mar;9(1):63-9. PMID: 2203445

Therapy

Woolf J, Marsden JT, Degg T, Whatley S, Reed P, Brazil N, Stewart MF, Badminton M
Ann Clin Biochem 2017 Mar;54(2):188-198. Epub 2017 Jan 19 doi: 10.1177/0004563216667965. PMID: 27555665
Arora S, Young S, Kodali S, Singal AK
Indian J Gastroenterol 2016 Nov;35(6):405-418. Epub 2016 Oct 31 doi: 10.1007/s12664-016-0698-0. PMID: 27796941
Schulenburg-Brand D, Katugampola R, Anstey AV, Badminton MN
Dermatol Clin 2014 Jul;32(3):369-84, ix. Epub 2014 May 5 doi: 10.1016/j.det.2014.03.001. PMID: 24891059
Sheth AP, Esterly NB, Rabinowitz LG, Poh-Fitzpatrick MB
Arch Dermatol 1994 May;130(5):614-7. PMID: 7910008
Elder GH
Semin Dermatol 1990 Mar;9(1):63-9. PMID: 2203445

Prognosis

Edel Y, Mamet R, Snast I, Kaftory R, Mazor S, Hodak E, Lapidoth M, Elis A, Molad Y, Levi A
J Eur Acad Dermatol Venereol 2020 Jan;34(1):184-187. Epub 2019 Jul 16 doi: 10.1111/jdv.15769. PMID: 31264284
Yasuda M, Chen B, Desnick RJ
Mol Genet Metab 2019 Nov;128(3):320-331. Epub 2018 Nov 30 doi: 10.1016/j.ymgme.2018.11.012. PMID: 30594473Free PMC Article
Arora S, Young S, Kodali S, Singal AK
Indian J Gastroenterol 2016 Nov;35(6):405-418. Epub 2016 Oct 31 doi: 10.1007/s12664-016-0698-0. PMID: 27796941
Katugampola RP, Badminton MN, Finlay AY, Whatley S, Woolf J, Mason N, Deybach JC, Puy H, Ged C, de Verneuil H, Hanneken S, Minder E, Schneider-Yin X, Anstey AV
Br J Dermatol 2012 Oct;167(4):901-13. Epub 2012 Sep 18 doi: 10.1111/j.1365-2133.2012.11160.x. PMID: 22816431
Huang WS, Liao LY, Wang CS, Chen PH
Changgeng Yi Xue Za Zhi 1999 Mar;22(1):111-6. PMID: 10418219

Clinical prediction guides

Yasuda M, Chen B, Desnick RJ
Mol Genet Metab 2019 Nov;128(3):320-331. Epub 2018 Nov 30 doi: 10.1016/j.ymgme.2018.11.012. PMID: 30594473Free PMC Article
Katugampola RP, Badminton MN, Finlay AY, Whatley S, Woolf J, Mason N, Deybach JC, Puy H, Ged C, de Verneuil H, Hanneken S, Minder E, Schneider-Yin X, Anstey AV
Br J Dermatol 2012 Oct;167(4):901-13. Epub 2012 Sep 18 doi: 10.1111/j.1365-2133.2012.11160.x. PMID: 22816431
Wickliffe JK, Abdel-Rahman SZ, Lee C, Kormos-Hallberg C, Sood G, Rondelli CM, Grady JJ, Desnick RJ, Anderson KE
Mol Med 2011 Mar-Apr;17(3-4):241-7. Epub 2010 Oct 15 doi: 10.2119/molmed.2010.00130. PMID: 20957336Free PMC Article
Whatley SD, Mason NG, Holme SA, Anstey AV, Elder GH, Badminton MN
Br J Dermatol 2010 Mar;162(3):642-6. Epub 2010 Jan 22 doi: 10.1111/j.1365-2133.2010.09631.x. PMID: 20105171
Sheth AP, Esterly NB, Rabinowitz LG, Poh-Fitzpatrick MB
Arch Dermatol 1994 May;130(5):614-7. PMID: 7910008

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • Orphanet, 2007
      Orphanet emergency guideline: Cutaneous porphyrias, 2007

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