Papillon-Lefèvre syndrome with albinism: a review of the literature and report of 2 brothers.
BACKGROUND: Papillon-Lefèvre syndrome (PLS) is a very rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and severe early onset of destructive periodontitis leading to premature loss of both primary and permanent dentitions. The etiopathogenesis of the condition suggests...
| Publicado en: | Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology & Endodontology Vol. 100; no. 6; pp. 709 - 717 |
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| Autores principales: | , |
| Formato: | case study diagnostic images pictorial Journal Article |
| Publicado: |
Elsevier B.V.
Dec2005
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=106446412&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 106446412 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10792104 1VC jtl: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology & Endodontology issn: 10792104 maglogo: N pubinfo: dt: Dec2005 vid: 100 iid: 6 pid: 467 pub: Elsevier B.V. place: New York, New York artinfo: ui: 106446412 106446412 2009170397 10.1016/j.tripleo.2004.08.030 NLM16301152 106446412 ppf: 709 ppct: 8 formats: tig: atl: Papillon-Lefèvre syndrome with albinism: a review of the literature and report of 2 brothers. aug: au: Hattab FN Amin WM affil: Consultant, Family Dental Clinic, Doha, State of Qatar; f_hattab@hotmail.com sug: subj: Albinism Complications Papillon-Lefevre Disease Complications Adolescence Adult Albinism Familial and Genetic Calcinosis Etiology Consanguinity DNA Analysis Male Meninges Pathology Tooth Loss Etiology Adolescent: 13-18 years Adult: 19-44 years Male ab: BACKGROUND: Papillon-Lefèvre syndrome (PLS) is a very rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and severe early onset of destructive periodontitis leading to premature loss of both primary and permanent dentitions. The etiopathogenesis of the condition suggests that there is a genetic basis for susceptibility to specific virulent pathogens. Variation in the clinical presentation of PLS has recently been observed. OBJECTIVE: The objective was to present the first report, which describes the concurrence of PLS and albinism. The etiology, pathology, and management of the condition were reviewed and genetic analysis was performed. SUBJECTS AND CLINICAL PRESENTATION: The probands are Jordanian brothers aged 13 and 20 years on their initial presentation. The parents were second cousins and not affected. The patients exhibited the typical clinical features of PLS with type 1 oculocutaneous albinism (OCA1). They also had increased susceptibility to infection manifested in recurrent tonsillitis, respiratory tract infection, pyoderma, onychogryphosis, and other pathosis. Skin biopsy demonstrated hyperkeratosis, focal parakeratosis, hypergranulosis, and acanthosis. Ectopic calcification of the dura was noticed in one of the probands. Hematological parameters tested were within the normal limits. The probands were tested for mutations in the causative genes of PLS and OCA1, cathepsin C (CTSC), and tyrosinase, respectively. Independent mutations (c.318-1G>A and c.817G>C/p.W272C) were identified in CTSC and tyrosinase, respectively. The probands were homozygous and their sister who had only PLS was homozygous for the same (CTSC) mutation but heterozygous for tyrosinase gene. CONCLUSION: We hope that this report of coinheritance PLS and albinism will initiate further investigations to disclose other possible variations that may enhance our knowledge on gene mutations of this intriguing syndrome. pubtype: Academic Journal doctype: case study diagnostic images pictorial Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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