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Naegeli-Franceschetti-Jadassohn syndrome(NFJS)

MedGen UID:
91010
Concept ID:
C0343111
Disease or Syndrome
Synonyms: Naegeli syndrome; NFJ syndrome; NFJS; Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy
SNOMED CT: Naegeli-Franceschetti-Jadassohn syndrome (239084001); Naegeli's syndrome (239084001); Franceschetti-Jadassohn syndrome (239084001)
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:0008059
OMIM®: 161000
Orphanet: ORPHA69087

Definition

Naegeli-Franceschetti-Jadassohn syndrome (NFJS) is a rare autosomal dominant disorder of skin, hair, and teeth. It is characterized by complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of skin hyperpigmentation that tends to disappear with age, thickening of the palms and soles (palmoplantar keratoderma), and decreased sweating. Dental anomalies including enamel defects, skin blistering, and nail dystrophy have been reported in some patients. It can be distinguished from dermatopathia pigmentosa reticularis (DPR) by the latter's features of lifelong persistence of the skin hyperpigmentation, partial alopecia, and absence of dental anomalies (summary by Lugassy et al., 2006). [from OMIM]

Additional description

From MedlinePlus Genetics
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.

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.

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).

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.  https://medlineplus.gov/genetics/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis

Clinical features

From HPO
Palmoplantar keratoderma
MedGen UID:
1635750
Concept ID:
C4551675
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Heat intolerance
MedGen UID:
66659
Concept ID:
C0231274
Pathologic Function
The inability to maintain a comfortable body temperature in warm or hot weather.
Carious teeth
MedGen UID:
8288
Concept ID:
C0011334
Disease or Syndrome
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Premature loss of teeth
MedGen UID:
66678
Concept ID:
C0232513
Finding
Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.
Hypohidrosis
MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
Abnormally diminished capacity to sweat.
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.
Fragile nails
MedGen UID:
341661
Concept ID:
C1856963
Finding
Nails that easily break.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNaegeli-Franceschetti-Jadassohn syndrome
Follow this link to review classifications for Naegeli-Franceschetti-Jadassohn syndrome 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
Itin PH, Lautenschlager S, Meyer R, Mevorah B, Rufli T
J Am Acad Dermatol 1993 Jun;28(6):942-50. doi: 10.1016/0190-9622(93)70135-g. PMID: 8496458

Diagnosis

Tubaigy SM, Hassan HM
J Forensic Sci 2014 Mar;59(2):555-8. Epub 2013 Nov 21 doi: 10.1111/1556-4029.12316. PMID: 24261749
Belligni EF, Dokal I, Hennekam RC
Eur J Med Genet 2011 May-Jun;54(3):231-5. Epub 2011 Jan 18 doi: 10.1016/j.ejmg.2011.01.001. PMID: 21252004
Itin PH, Lautenschlager S
Dermatology 1998;197(3):281-90. doi: 10.1159/000018015. PMID: 9812038
Schnur RE, Heymann WR
Semin Cutan Med Surg 1997 Mar;16(1):72-80. doi: 10.1016/s1085-5629(97)80038-7. PMID: 9125768
Itin PH, Lautenschlager S, Meyer R, Mevorah B, Rufli T
J Am Acad Dermatol 1993 Jun;28(6):942-50. doi: 10.1016/0190-9622(93)70135-g. PMID: 8496458

Therapy

Schnur RE, Heymann WR
Semin Cutan Med Surg 1997 Mar;16(1):72-80. doi: 10.1016/s1085-5629(97)80038-7. PMID: 9125768

Prognosis

Tubaigy SM, Hassan HM
J Forensic Sci 2014 Mar;59(2):555-8. Epub 2013 Nov 21 doi: 10.1111/1556-4029.12316. PMID: 24261749
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
Itin PH, Lautenschlager S, Meyer R, Mevorah B, Rufli T
J Am Acad Dermatol 1993 Jun;28(6):942-50. doi: 10.1016/0190-9622(93)70135-g. PMID: 8496458

Clinical prediction guides

Lugassy J, McGrath JA, Itin P, Shemer R, Verbov J, Murphy HR, Ishida-Yamamoto A, Digiovanna JJ, Bercovich D, Karin N, Vitenshtein A, Uitto J, Bergman R, Richard G, Sprecher E
J Invest Dermatol 2008 Jun;128(6):1517-24. Epub 2007 Nov 29 doi: 10.1038/sj.jid.5701187. PMID: 18049449
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
Whittock NV, Coleman CM, McLean WH, Ashton GH, Acland KM, Eady RA, McGrath JA
J Invest Dermatol 2000 Oct;115(4):694-8. doi: 10.1046/j.1523-1747.2000.00097.x. PMID: 10998145
Tzermias C, Zioga A, Hatzis I
Clin Exp Dermatol 1995 Jul;20(4):331-5. doi: 10.1111/j.1365-2230.1995.tb01336.x. PMID: 8548993

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