U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Dermatopathia pigmentosa reticularis(DPR)

MedGen UID:
98037
Concept ID:
C0406778
Congenital Abnormality
Synonym: DPR
SNOMED CT: DPR - Dermatopathia pigmentosa reticularis (239088003); Dermatopathia pigmentosa reticularis (239088003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): KRT14 (17q21.2)
 
Monarch Initiative: MONDO:0007445
OMIM®: 125595
Orphanet: ORPHA86920

Definition

Dermatopathia pigmentosa reticularis (DPR) is a rare heritable disorder consisting of a triad of cutaneous findings including reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis (Heimer et al., 1992). [from OMIM]

Additional description

From MedlinePlus Genetics
NFJS/DPR also affects the skin on the hands and feet. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma. Some affected individuals also have blistering on their palms and soles. Their fingernails and toenails may be malformed, brittle, and either thicker or thinner than usual. Most affected individuals are missing the patterned ridges on the skin of the hands and feet, called dermatoglyphs, that are the basis for each person's unique fingerprints.

Additional features of NFJS/DPR can include a reduced ability to sweat (hypohidrosis) or excess sweating (hyperhidrosis) and dental abnormalities. Some affected individuals also have hair loss (alopecia) on the scalp, eyebrows, and underarms. The alopecia is described as noncicatricial because it does not leave scars (cicatrices).

Among the most common signs of NFJS/DPR is a net-like pattern of dark brown or gray skin coloring, known as reticulate hyperpigmentation. This darker pigmentation is seen most often on the neck, chest, and abdomen, although it can also occur in and around the eyes and mouth. Reticulate hyperpigmentation appears in infancy or early childhood. It may fade with age or persist throughout life.

Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally described as separate conditions; however, because they have similar features and are caused by mutations in the same gene, they are now often considered forms of the same disorder.  https://medlineplus.gov/genetics/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis

Clinical features

From HPO
Palmoplantar keratosis
MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
Alopecia of scalp
MedGen UID:
658454
Concept ID:
C0574769
Finding
Reticulate pigmentation of oral mucosa
MedGen UID:
338874
Concept ID:
C1852148
Finding
A net-like pattern of increased pigmentation of the oral cavity.
Abnormal conjunctiva morphology
MedGen UID:
871353
Concept ID:
C4025847
Anatomical Abnormality
An abnormality of the conjunctiva.
Hypohidrosis
MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
Abnormally diminished capacity to sweat.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Reticular hyperpigmentation
MedGen UID:
338832
Concept ID:
C1851972
Finding
Increased pigmentation of the skin with a netlike (reticular) pattern.
Adermatoglyphia
MedGen UID:
338875
Concept ID:
C1852150
Finding
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDermatopathia pigmentosa reticularis
Follow this link to review classifications for Dermatopathia pigmentosa reticularis 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
Noto G, Pravatà G, Aricò M
Int J Dermatol 1998 Nov;37(11):829-32. doi: 10.1046/j.1365-4362.1998.00447.x. PMID: 9865868

Diagnosis

Bishnoi A, Jamwal M, Das R, Scaria V, Vishwajeet V, De D, Saikia UN, Mahajan R
Am J Med Genet A 2021 Jan;185(1):278-281. Epub 2020 Oct 27 doi: 10.1002/ajmg.a.61943. PMID: 33111394
Goel R, Bodh SA, Sardana K, Goel A
Nepal J Ophthalmol 2015 Jan-Jun;7(1):79-81. doi: 10.3126/nepjoph.v7i1.13175. PMID: 26695611
Schnur RE, Heymann WR
Semin Cutan Med Surg 1997 Mar;16(1):72-80. doi: 10.1016/s1085-5629(97)80038-7. PMID: 9125768
Maso MJ, Schwartz RA, Lambert WC
Arch Dermatol 1990 Jul;126(7):935-9. PMID: 2360843
Fulk CS
J Am Acad Dermatol 1984 Jan;10(1):1-16. doi: 10.1016/s0190-9622(84)80032-8. PMID: 6420449

Therapy

Goel R, Bodh SA, Sardana K, Goel A
Nepal J Ophthalmol 2015 Jan-Jun;7(1):79-81. doi: 10.3126/nepjoph.v7i1.13175. PMID: 26695611
Schnur RE, Heymann WR
Semin Cutan Med Surg 1997 Mar;16(1):72-80. doi: 10.1016/s1085-5629(97)80038-7. PMID: 9125768
Arthur EA, Brod BA, Kantor GR
Int J Dermatol 1995 Sep;34(9):645-6. doi: 10.1111/j.1365-4362.1995.tb01099.x. PMID: 7591467

Prognosis

Goel R, Bodh SA, Sardana K, Goel A
Nepal J Ophthalmol 2015 Jan-Jun;7(1):79-81. doi: 10.3126/nepjoph.v7i1.13175. PMID: 26695611
Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E
Am J Hum Genet 2006 Oct;79(4):724-30. Epub 2006 Aug 25 doi: 10.1086/507792. PMID: 16960809Free PMC Article

Clinical prediction guides

Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E
Am J Hum Genet 2006 Oct;79(4):724-30. Epub 2006 Aug 25 doi: 10.1086/507792. PMID: 16960809Free PMC Article
Sprecher E, Itin P, Whittock NV, McGrath JA, Meyer R, DiGiovanna JJ, Bale SJ, Uitto J, Richard G
J Invest Dermatol 2002 Sep;119(3):692-8. doi: 10.1046/j.1523-1747.2002.01855.x. PMID: 12230514
Noto G, Pravatà G, Aricò M
Int J Dermatol 1998 Nov;37(11):829-32. doi: 10.1046/j.1365-4362.1998.00447.x. PMID: 9865868
Fulk CS
J Am Acad Dermatol 1984 Jan;10(1):1-16. doi: 10.1016/s0190-9622(84)80032-8. PMID: 6420449

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...