title: Dermatophytic disease with deficit in CARD9: A new case with a brain impairment.
abstract: BACKGROUND
  Dermatophytic disease individualized by Hadida and Schousboe in 1959 is a rare form of chronic dermatophyte infection; characterized by subcutaneous and visceral invasion and a therapeutic failure. We report a case of dermatophytic disease with brain abscess in an Algerian patient.
  
  
  METHODS
  The patient was 47-year-old, she was born parents first cousins. She had since the age of 10 years scaly scalp lesions that became secondarily papular and nodular. At the age of 17 years, the patient had a generalized skin involvement with multiple nodular lesions, diffuse disease of the nails (plurionyxis), poly lymphadenopathies affecting the cervical, axillary and inguinal areas. Mycological tests identified Trichophyton rubrum. Histopathological examinations showed caseiform necrosis with epithelioid and giant cells. PAS staining showed hyphae in necrosis. The rest of the blood and urine tests were normal. Sequencing CARD9 allowed to highlight a homozygous mutation Q289X. The evolution was marked by an appearance at the age of 47 of a right cerebral abscess fronto-temporo-parietal, cortico-subcortical detected by MRI. The patient was given itraconazole 200mg/day with good evolution after three months of decline.
  
  
  CONCLUSIONS
  Dermatophytic disease is very rare. Fifty cases have been published, mostly from North Africa, a strong endogamy region. Signs and symptoms almost always start with a scalp ringworm with almost constant occurrence of complications: in our patient a cerebral localization with a good evolution with itraconazole. Immunologically it is characterized by an autosomal recessive deficiency CARD9. This observation is notable for the onset of the disease at an early age, the dermatophyte T. rubrum and the favourable outcome of the brain lesion with itraconazole.
  
  
  CONCLUSIONS
  Dermatophytic disease is rare, often severe. Our case is original because of the occurrence of a cerebral localization with good response to itraconazole and its mechanism of action deserves to be elucidated.
authors.affiliation: Faculty of Medicine, University Aboubakr Belkaid, Laboratory ToxiMed 32, 13000 Tlemcen, Algeria. Electronic address: amranidermato@gmail.com.
authors.forename: O
authors.initials: O
authors.lastname: Boudghene Stambouli
authors.affiliation: Faculty of Medicine, University Aboubakr Belkaid, Laboratory ToxiMed 32, 13000 Tlemcen, Algeria.
authors.forename: N
authors.initials: N
authors.lastname: Amrani
authors.affiliation: Laboratory of Mycology, Department of Dermatology, University Hospital of Tlemcen, 13000 Tlemcen, Algeria.
authors.forename: K
authors.initials: K
authors.lastname: Boudghéne Stambouli
authors.affiliation: Laboratory of Mycology, Department of Dermatology, University Hospital of Tlemcen, 13000 Tlemcen, Algeria.
authors.forename: F
authors.initials: F
authors.lastname: Bouali
mesh_terms: D000462:Algeria; D053468:CARD Signaling Adaptor Proteins / Q000235:genetics*; D020314:Central Nervous System Fungal Infections / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D003241:Consanguinity; D003881:Dermatomycoses / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D017964:Itraconazole / Q000627:therapeutic use; D008875:Middle Aged; D020125:Mutation, Missense; D014005:Tinea / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D014249:Trichophyton
chemical_list: D053468:CARD Signaling Adaptor Proteins; C505855:CARD9 protein, human; D017964:Itraconazole
keywords: Atteinte cérébrale; Cerebral abscess; Deficit in CARD9; Dermatophytic disease; Déficit en CARD9; La maladie dermatophytique; Trichophyton rubrum