John J. DiGiovanna, M.D.

John J. DiGiovanna, M.D.

  • Center for Cancer Research
  • National Cancer Institute
  • Building 37, Room 4002
  • Bethesda, MD 20892-4262
  • 240-760-6138
Laboratory of Cancer Biology and Genetics


Dr. DiGiovanna is an expert in the study of inherited skin disorders (genodermatoses), including their clinical phenotype, underlying causes, and clinical management. He has worked extensively on the clinical characterization and underlying genetic causes of the disorders of cornification, skin cancer predisposition syndromes, and the disorders of DNA repair. Dr. DiGiovanna is a major participant in the NIH Dermatology Consultation Service providing evaluation for patients on NIH-wide protocols.

Areas of Expertise

1) DNA repair disorders (xeroderma pigmentosum, trichothiodystrophy) 2) disorders of cornification (ichthyoses and related skin types) 3) skin cancer chemoprevention and management 4) systemic retinoid therapy

Information for Patients

Learn more about our clinical trials and the highly specialized care teams that lead them.


Selected Recent Publications

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease

Burke EA, Reichard KE, Wolfe LA, Brooks BP, DiGiovanna JJ, Hadley DW, Lehky TJ, Gropman AL, Tifft CJ, Gahl WA, Toro C, Adams D.
Am J Med Genet A. 182(5): 1278-1283, 2020. [ Journal Article ]

Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population

Pugh J, Khan SG, Tamura D, Goldstein AM, Landi MT, DiGiovanna JJ, Kraemer KH.
JAMA Dermatol. 155(1): 72-78, 2019. [ Journal Article ]

Mortality-associated immunological abnormalities in trichothiodystrophy: correlation of reduced levels of immunoglobulin and neutrophils with poor patient survival

Randall G, Kraemer KH, Pugh J, Tamura D, DiGiovanna JJ, Khan SG, Oetjen KA.
Br J Haematol. 185(4): 752-754, 2019. [ Journal Article ]

Four-dimensional, dynamic mosaicism is a hallmark of normal human skin that permits mapping of the organization and patterning of human epidermis during terminal differentiation

Wang Y, Masaki T, Khan SG, Tamura D, Kuschal C, Rogers M, DiGiovanna JJ, Kraemer KH.
PLoS One. 13(6): e0198011, 2018. [ Journal Article ]

Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F

Shanbhag NM, Geschwind MD, DiGiovanna JJ, Groden C, Godfrey R, Yousefzadeh MJ, Wade EA, Niedernhofer LJ, Malicdan MCV, Kraemer KH, Gahl WA, Toro C.
Neurol Genet. 4(3): e240, 2018. [ Book Chapter ]