Rare Diseases Symptoms Automatic Extraction

Isolation and characterization of dental pulp stem cells from a patient with Papillon-Lefèvre syndrome.

[papillon-lefèvre syndrome]

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by immune dysregulation because of a mutation in cathepsin c gene, resulting in hyperkeratosis of the palms, soles, elbows, and knees combined with premature loss of the primary and permanent dentitions. Periodontal tissue abnormalities in PLS patients were reported previously. However, less is known about dental pulp tissue derived cells of PLS patients. This study aimed to show stem cell potential of PLS dental pulp stem cells (DPSCs) and provide new evidence regarding the pathophysiology of the disease.DPSCs were characterized by using flow cytometry and immunocytochemistry. They were also induced to differentiate into adipogenic, osteogenic, chondrogenic, odontogenic, and myogenic cells.The results revealed that PLS DPSCs are stained positive for mesenchymal stem cells surface markers CD29, CD73, CD90, CD105, and CD166. PLS DPSCs were able to differentiate into adipogenic, osteogenic, chondrogenic, and odontogenic cell types properly. PLS DPSCs expressed embryonic stem cell markers Oct4, Sox2, cMYc, and Klf4 and showed similar proliferation rate compared with DPSCs isolated from healthy young controls. Interestingly, it was found that unlike the healthy DPSCs, PLS DPSCs are not able to form myotubes with correct morphology.These data are being reported for the first time; therefore, they might provide new insights to the pathology of the disease. Our results suggest that the PLS DPSCs might be an autologous stem cell source for PLS patients for cellular therapy of alveolar bone defects and other dental tissue abnormalities observed in PLS.

Diseases presenting "first time" symptom

  • achondroplasia
  • acute rheumatic fever
  • adrenal incidentaloma
  • adrenomyeloneuropathy
  • alpha-thalassemia
  • aniridia
  • aromatase deficiency
  • canavan disease
  • carcinoma of the gallbladder
  • cholangiocarcinoma
  • classical phenylketonuria
  • congenital adrenal hyperplasia
  • congenital toxoplasmosis
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • dentin dysplasia
  • dentinogenesis imperfecta
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • fabry disease
  • familial mediterranean fever
  • gm1 gangliosidosis
  • harlequin ichthyosis
  • heparin-induced thrombocytopenia
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kallmann syndrome
  • liposarcoma
  • locked-in syndrome
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • monosomy 21
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • oligodontia
  • omenn syndrome
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • pendred syndrome
  • phenylketonuria
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • severe combined immunodeficiency
  • sneddon syndrome
  • triple a syndrome
  • trochlear dysplasia
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • werner syndrome
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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