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Aged leonine appearance

MedGen UID:
763245
Concept ID:
C3550331
Finding
HPO: HP:0008509

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAged leonine appearance

Conditions with this feature

Focal facial dermal dysplasia type III
MedGen UID:
315643
Concept ID:
C1744559
Disease or Syndrome
The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013). FFDD2 (614973) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant. For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (136500).

Recent clinical studies

Etiology

Mahévas T, Arnulf B, Bouaziz JD, Livideanu CB, Osio A, Servy A, Cribier B, Sassolas B, Jachiet M, Michel L, Aucouturier P, Lipsker D, Frances C, Sbidian E, Rybojad M, Descamps V, D'Incan M, Humbert P, Beylot-Barry M, Passeron T, de Moreuil C, Taha RY, Hermine O, Dupuy A, Barbarot S, Debarbieux S, Carpentier O, Brault F, Schmutz JL, Thomas-Beaulieu D, Modiano P, Zarnitsky C, Lifermann F, Baubion E, Limal N, Le Bras F, Le Moigne M, Tauber M, Talbot A, Prud'homme R, Peltier S, De Masson A, Battistella M, Bagot M, Mékinian A, Fain O
Blood 2020 Apr 2;135(14):1101-1110. doi: 10.1182/blood.2019002300. PMID: 32027747
Pierrotti LC, Urbano PRP, Nali LHDS, Romano CM, Bicalho CDS, Arnone M, Valente NS, Pannuti CS, David-Neto E, Azevedo LS
Transpl Infect Dis 2019 Aug;21(4):e13133. Epub 2019 Jul 6 doi: 10.1111/tid.13133. PMID: 31233669
Kendrick CG, Brown RA, Reina R, Ford BP, Reed RJ, Nesbitt LT Jr
Cutis 2004 Jan;73(1):57-62. PMID: 14964633
Vocks E, Hertenberger B, Worret WI, Kaudewitz P, Fellbaum C, Ring J
Eur J Dermatol 2000 Jun;10(4):309-12. PMID: 10846262

Diagnosis

Mahévas T, Arnulf B, Bouaziz JD, Livideanu CB, Osio A, Servy A, Cribier B, Sassolas B, Jachiet M, Michel L, Aucouturier P, Lipsker D, Frances C, Sbidian E, Rybojad M, Descamps V, D'Incan M, Humbert P, Beylot-Barry M, Passeron T, de Moreuil C, Taha RY, Hermine O, Dupuy A, Barbarot S, Debarbieux S, Carpentier O, Brault F, Schmutz JL, Thomas-Beaulieu D, Modiano P, Zarnitsky C, Lifermann F, Baubion E, Limal N, Le Bras F, Le Moigne M, Tauber M, Talbot A, Prud'homme R, Peltier S, De Masson A, Battistella M, Bagot M, Mékinian A, Fain O
Blood 2020 Apr 2;135(14):1101-1110. doi: 10.1182/blood.2019002300. PMID: 32027747
Pierrotti LC, Urbano PRP, Nali LHDS, Romano CM, Bicalho CDS, Arnone M, Valente NS, Pannuti CS, David-Neto E, Azevedo LS
Transpl Infect Dis 2019 Aug;21(4):e13133. Epub 2019 Jul 6 doi: 10.1111/tid.13133. PMID: 31233669
Nassem S, Kashyap R, Awasthi NP, Krishnani N, Kumari N
Australas J Dermatol 2009 Nov;50(4):285-8. doi: 10.1111/j.1440-0960.2009.00560.x. PMID: 19916974
Ito T, Yamamoto T, Matsumoto Y, Wakamatsu J, Kato Y, Tsuboi R
Dermatol Online J 2008 Sep 15;14(9):6. PMID: 19061588
Kendrick CG, Brown RA, Reina R, Ford BP, Reed RJ, Nesbitt LT Jr
Cutis 2004 Jan;73(1):57-62. PMID: 14964633

Therapy

Mahévas T, Arnulf B, Bouaziz JD, Livideanu CB, Osio A, Servy A, Cribier B, Sassolas B, Jachiet M, Michel L, Aucouturier P, Lipsker D, Frances C, Sbidian E, Rybojad M, Descamps V, D'Incan M, Humbert P, Beylot-Barry M, Passeron T, de Moreuil C, Taha RY, Hermine O, Dupuy A, Barbarot S, Debarbieux S, Carpentier O, Brault F, Schmutz JL, Thomas-Beaulieu D, Modiano P, Zarnitsky C, Lifermann F, Baubion E, Limal N, Le Bras F, Le Moigne M, Tauber M, Talbot A, Prud'homme R, Peltier S, De Masson A, Battistella M, Bagot M, Mékinian A, Fain O
Blood 2020 Apr 2;135(14):1101-1110. doi: 10.1182/blood.2019002300. PMID: 32027747
Pierrotti LC, Urbano PRP, Nali LHDS, Romano CM, Bicalho CDS, Arnone M, Valente NS, Pannuti CS, David-Neto E, Azevedo LS
Transpl Infect Dis 2019 Aug;21(4):e13133. Epub 2019 Jul 6 doi: 10.1111/tid.13133. PMID: 31233669
Lee YI, Kim SK, Oh SH, Kim DY
Eur J Dermatol 2018 Apr 1;28(2):255-256. doi: 10.1684/ejd.2018.3228. PMID: 29400286
Ito T, Yamamoto T, Matsumoto Y, Wakamatsu J, Kato Y, Tsuboi R
Dermatol Online J 2008 Sep 15;14(9):6. PMID: 19061588
Peter LM, Ammoury A, Chiavassa-Gandois H, Lamant L, Paul CF
Clin Exp Dermatol 2008 Aug;33(5):606-10. Epub 2008 May 12 doi: 10.1111/j.1365-2230.2008.02744.x. PMID: 18477005

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