U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Disabling pansclerotic morphea of childhood(DPMC)

MedGen UID:
858243
Concept ID:
C3898649
Disease or Syndrome
Synonyms: DPMC; SCLERODERMA, JUVENILE LOCALIZED
 
Gene (location): STAT4 (2q32.2-32.3)
 
Monarch Initiative: MONDO:0957497
OMIM®: 620443

Definition

Disabling pansclerotic morphea of childhood is the most severe subtype of deep morphea within the spectrum of juvenile localized scleroderma. Patients affected by this systemic inflammatory disorder experience poor wound healing with rapidly progressive deep fibrosis involving the mucous membranes, dermis, subcutaneous fat, fascia, muscles, and bone, leading to contractures, musculoskeletal atrophy, and articular ankylosis. Systemic manifestations include cytopenias and hypogammaglobulinemia, but scleroderma-associated autoantibodies are usually not present. The disorder is associated with high morbidity and mortality due to squamous cell carcinoma, restrictive pulmonary disease, sepsis, and gangrene (Baghdassarian et al., 2023). [from OMIM]

Clinical features

From HPO
Squamous cell carcinoma of the skin
MedGen UID:
107512
Concept ID:
C0553723
Neoplastic Process
Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium.
Joint contracture
MedGen UID:
3228
Concept ID:
C0009918
Anatomical Abnormality
A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.
Lymphopenia
MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
A reduced number of lymphocytes in the blood.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.
Elevated circulating C-reactive protein concentration
MedGen UID:
892906
Concept ID:
C4023452
Finding
An abnormal elevation of the C-reactive protein level in the blood circulation.
Oral ulcer
MedGen UID:
57699
Concept ID:
C0149745
Disease or Syndrome
Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.
Skin ulcer
MedGen UID:
52369
Concept ID:
C0037299
Disease or Syndrome
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Morphea
MedGen UID:
315951
Concept ID:
C1527383
Disease or Syndrome
Isolated patches of hardened skin (scleroderma).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDisabling pansclerotic morphea of childhood

Recent clinical studies

Etiology

Ruiz-Matta JM, Flores-Bozo LR, Dominguez-Cherit J
Pediatr Dermatol 2017 Jul;34(4):e164-e167. Epub 2017 May 23 doi: 10.1111/pde.13160. PMID: 28543434
Odhav A, Hoeltzel MF, Canty K
Pediatr Dermatol 2014 Mar-Apr;31(2):e42-7. Epub 2014 Jan 3 doi: 10.1111/pde.12279. PMID: 24383741
Wollina U, Buslau M, Heinig B, Petrov I, Unger E, Kyriopoulou E, Koch A, Köstler E, Schönlebe J, Haroske G, Doede T, Pramatarov K
Int J Low Extrem Wounds 2007 Dec;6(4):291-8. doi: 10.1177/1534734607308731. PMID: 18048875
Devidayal, Singh S, Kumar L, Radotra BD
Rheumatol Int 2002 Jan;21(4):158-60. doi: 10.1007/s00296-001-0150-2. PMID: 11843172

Diagnosis

Soh HJ, Samuel C, Heaton V, Renton WD, Cox A, Munro J
Rheumatol Int 2019 May;39(5):933-941. Epub 2019 Mar 5 doi: 10.1007/s00296-019-04269-w. PMID: 30838436
Odhav A, Hoeltzel MF, Canty K
Pediatr Dermatol 2014 Mar-Apr;31(2):e42-7. Epub 2014 Jan 3 doi: 10.1111/pde.12279. PMID: 24383741
Forsea AM, Cretu AN, Ionescu R, Giurcaneanu C
J Med Life 2008 Jul-Sep;1(3):348-54. PMID: 20108512Free PMC Article
Devidayal, Singh S, Kumar L, Radotra BD
Rheumatol Int 2002 Jan;21(4):158-60. doi: 10.1007/s00296-001-0150-2. PMID: 11843172

Therapy

Soh HJ, Samuel C, Heaton V, Renton WD, Cox A, Munro J
Rheumatol Int 2019 May;39(5):933-941. Epub 2019 Mar 5 doi: 10.1007/s00296-019-04269-w. PMID: 30838436
Odhav A, Hoeltzel MF, Canty K
Pediatr Dermatol 2014 Mar-Apr;31(2):e42-7. Epub 2014 Jan 3 doi: 10.1111/pde.12279. PMID: 24383741
Petrov I, Gantcheva M, Miteva L, Vassileva S, Pramatarov K
Pediatr Dermatol 2009 Jan-Feb;26(1):59-61. doi: 10.1111/j.1525-1470.2008.00823.x. PMID: 19250408
Forsea AM, Cretu AN, Ionescu R, Giurcaneanu C
J Med Life 2008 Jul-Sep;1(3):348-54. PMID: 20108512Free PMC Article
Wollina U, Buslau M, Heinig B, Petrov I, Unger E, Kyriopoulou E, Koch A, Köstler E, Schönlebe J, Haroske G, Doede T, Pramatarov K
Int J Low Extrem Wounds 2007 Dec;6(4):291-8. doi: 10.1177/1534734607308731. PMID: 18048875

Prognosis

Soh HJ, Samuel C, Heaton V, Renton WD, Cox A, Munro J
Rheumatol Int 2019 May;39(5):933-941. Epub 2019 Mar 5 doi: 10.1007/s00296-019-04269-w. PMID: 30838436
Ruiz-Matta JM, Flores-Bozo LR, Dominguez-Cherit J
Pediatr Dermatol 2017 Jul;34(4):e164-e167. Epub 2017 May 23 doi: 10.1111/pde.13160. PMID: 28543434
Forsea AM, Cretu AN, Ionescu R, Giurcaneanu C
J Med Life 2008 Jul-Sep;1(3):348-54. PMID: 20108512Free PMC Article
Wollina U, Buslau M, Heinig B, Petrov I, Unger E, Kyriopoulou E, Koch A, Köstler E, Schönlebe J, Haroske G, Doede T, Pramatarov K
Int J Low Extrem Wounds 2007 Dec;6(4):291-8. doi: 10.1177/1534734607308731. PMID: 18048875
Devidayal, Singh S, Kumar L, Radotra BD
Rheumatol Int 2002 Jan;21(4):158-60. doi: 10.1007/s00296-001-0150-2. PMID: 11843172

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...