National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Familial reactive perforating collagenosis



Other Names:
Inherited reactive perforating collagenosis
Categories:

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 79147

Definition
Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.

Visit the Orphanet disease page for more resources.
Last updated: 10/1/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Erythematous papule 0030350
Maculopapular exanthema 0040186
30%-79% of people have these symptoms
Abnormal cutaneous collagen fibril morphology 0031512
Abnormality of epidermal morphology 0011124
Hyperkeratotic papule 0045059
Increased number of elastic fibers in the dermis 0025164
Spotty hyperpigmentation
Spotty increased pigmentation
0005585
5%-29% of people have these symptoms
Abnormality of the periorbital region 0000606
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ]
0000377
Abnormality of the scalp 0001965
Crusting erythematous dermatitis 0007473
Perifolliculitis 0012322
Pruritus
Itching
Itchy skin
Skin itching
[ more ]
0000989
1%-4% of people have these symptoms
Abnormal oral mucosa morphology
Abnormality of lining of mouth
0011830
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Last updated: 7/1/2020

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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