Fungus Among Us

1
Fungus Among Us

• Sandhya Mani, MD
• Fellow, Allergy/Immunology
• LSUHSC-New Orleans/
• Childrens Hospital of New Orleans

2
Chief Complaint

• 10-year-old African-American male presents as a
  referral from his community allergist/immunologist
  for persistent and recurrent tinea capitis
  infection along with recurrent upper and lower
  respiratory tract infections

3
History

• Allergy
• Alternating nasal congestion and drainage since 3
  months of age
• Moderate persistent asthma since infancy better
  controlled on Fluticasone/Salmeterol and
  Omalizumab
• Atopic Dermatitis since birth with skin prick
  test positivity to multiple foods and inhalants
• Anaphylaxis to milk and fish

4
History

• Infection
• Otitis media began at 3 months of age and too
  numerous to count total otitis media infections
• Too numerous to count sinus infections since
  infancy (fewer as grows older)
• Groin abscesses as an infant with drainage on 3
  occasions (now resolved)
• Pneumonia diagnosed by chest X Ray once yearly
  from age 3 to age 9

5
History

• Infection
• History of oral candidiasis during infancy and
  early childhood, not always related to concurrent
  antibiotic therapy
• Tinea capitis, beginning 2 years ago, currently
  with progression to kerion development and
  resistant to multiple oral anti-fungal courses
• Failed griseofulvin, fluconazole and ketoconazole
• Tinea unguium also not responsive to oral
  therapies

6
Past History

• Birth History premature delivery at 28 WGA
  Dysmorphic features included flattened nasal
  bridge, mid-face hypoplasia, low-set ears and
  simian crease
• Unspecified pancreatic abnormality since infancy
  (diagnosed after presentation with malabsorptive
  diarrhea) requiring pancreatic enzyme
  supplementation
• Growth retardation
• current bone age 7 y/o (chronologic age 10
  y/o)

7
Past History

• Surgical History
• Adenoidectomy X 2
• Pressure equalization tubes X 2
• Sinus surgery X 2 (most recently last year)
• Tonsillectomy and uvulectomy done 3 years ago
• Immunization History
• Normal childhood immunizations all up to date
• No Prevnar
• PPV-23 X 1 dose (1 year ago)
• Family History
• Negative for atopic dermatitis and asthma
• Negative for immunodeficiency and unusual/ severe
  infections
• Pt has no full siblings and 2 paternal
  half-siblings who are healthy

8
Physical Exam

• Wt 22.8 kg (lt3)
• Ht 124.4 cm (lt3)
• Skin diffuse, pinpoint, papular, dry rash over
  thorax and disfiguring onychomycosis of toenails
• Scalp diffuse alopecia, dry patches and
  posterior boggy and thickened area of
  inflammation
• HEENT scarring of TMs bilaterally, flat nasal
  bridge, poor dentition/ inflamed gingiva, no
  uvula/tonsils noted
• Cardiovascular, lung, abdominal and vascular
  exams normal

9
Physical Exam
10
Physical Exam
Hypoplastic thumb
Normal thumb
11
Laboratory Values
Metabolic Profile
CBC with Diff
S56 L30 E1 M8
Ca 10.3, TP 9.8 , Alb 5.5 LFTs all normal
Total Immunoglobulins
IgG 1670 mg/dL (normal 595-1275 mg/dL) IgA
214 mg/dL (normal 43-207 mg/dL) IgM 120 mg/dL
(normal 28-104 mg/dL) IgE 1060 IU/mL
(normal 0-570 IU/mL)
12
Laboratory Values
Anti-Pneumococcal Antibodies (IgG)
Protective antibody titers to 12 of the 14
pneumococcal serotypes tested after one dose of
the polysaccharide vaccine
Lymphocyte Reconstitution Panel
CD3, CD4, CD8, CD19 and CD20 percentages all
normal CD45 RA and RO percentages normal
13
Laboratory Values
14
Laboratory Values

• Cystic Fibrosis Mutation Analysis
• Negative for the 97 mutations analyzed
• Dihydrorodamine Assay negative for Chronic
  Granulomatous Disease
• Normal chromosomal analysis Genetic oligoarray
  negative for microdeletions/ point mutations
• Scalp scraping by Dermatology
• Cladosporium species started on Itraconazole

15
Interventions

• Omalizumab and allergen immunotherapy mild
  improvement in asthma exacerbations and atopic
  dermatitis
• Itraconazole some improvement in tinea capitis
  infection however no change in tinea unguium to
  date
• Being evaluated for growth hormone injections

16
Differential Diagnosis

• Chronic Mucocutaneous Candidiasis (CMCC) with
  possible associated Hyper-IgE syndrome
• Autoimmune Polyendocrinopathy-Candidiasis-Ectoderm
  al Dystrophy (APECED)
• Mild form of Immune Poly-Endocrinopathy X-Linked
  syndrome (IPEX)
• Isolated Hyper-IgE syndrome
• Chronic Granulomatous Disease
• Eczema with superinfection

17
Discussion

• Need for a STAT 3 mutation analysis? Other gene
  analyses such as AIRE/ FoxP3
• Could this simply be severe atopic dermatitis
  with superinfection?
• Is there a relationship among the dysmorphic
  findings, the endocrine abnormalities and
  recurrent infections?