Posaconazole treatment of extensive skin and nail dermatophytosis due to autosomal recessive deficiency of CARD9.
OBJECTIVE
Deep dermatophytosis is a disease that involves dermatophytic infection of the dermis and/or lymph nodes and sometimes the central nervous system. Autosomal recessive deficiency of the CARD9 (caspase recruitment domain 9) protein has been described in 17 patients with deep dermatophytosis from Algeria, Tunisia, and Morocco.


METHODS
We report a case of extensive dermatophytosis due to autosomal recessive CARD9 deficiency in a patient of Egyptian origin. This patient had extensive superficial Trichophyton rubrum infection of the skin and nails without significant visceral involvement. Treatment with posaconazole was well tolerated and induced a complete clinical remission within 3 months that continued for 8 months of follow-up.


CONCLUSIONS
This case report underlines the phenotypic variability of dermatophytic infection in patients with CARD9 deficiency and the potential efficacy of posaconazole for this indication.
Department of Dermatology, Assistance Publique Hôpitaux de Paris, Hôpital Saint Louis, Université Paris VII, Sorbonne Paris Cité, Paris, France.
Marie
M
Jachiet
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Imagine Institute, Paris Descartes University, Sorbonne Paris Cité, Paris, France3Infectious Diseases Unit, Imagine Institute, Paris Descartes University, Necker-Enfants Maladies Hospital.
Fanny
F
Lanternier
Department of Dermatology, Assistance Publique Hôpitaux de Paris, Hôpital Saint Louis, Université Paris VII, Sorbonne Paris Cité, Paris, France.
Michel
M
Rybojad
Department of Dermatology, Assistance Publique Hôpitaux de Paris, Hôpital Saint Louis, Université Paris VII, Sorbonne Paris Cité, Paris, France.
Martine
M
Bagot
Department of Dermatology, Assistance Publique Hôpitaux de Paris, Hôpital Saint Louis, Université Paris VII, Sorbonne Paris Cité, Paris, France.
Lina
L
Ibrahim
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Imagine Institute, Paris Descartes University, Sorbonne Paris Cité, Paris, France.
Jean-Laurent
JL
Casanova
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Imagine Institute, Paris Descartes University, Sorbonne Paris Cité, Paris, France.
Anne
A
Puel
Department of Dermatology, Assistance Publique Hôpitaux de Paris, Hôpital Saint Louis, Université Paris VII, Sorbonne Paris Cité, Paris, France.
Jean-David
JD
Bouaziz
D000328:Adult; D001706:Biopsy; D053468:CARD Signaling Adaptor Proteins / Q000172:deficiency* / Q000235:genetics; D004252:DNA Mutational Analysis; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009154:Mutation; D009262:Nails / Q000473:pathology*; D010641:Phenotype; D012867:Skin / Q000473:pathology*; D014005:Tinea / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D014230:Triazoles / Q000627:therapeutic use*
D053468:CARD Signaling Adaptor Proteins; C505855:CARD9 protein, human; D014230:Triazoles; C101425:posaconazole