Physician
Dermatology
Dr. John J. Digiovanna, MD
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John J. Digiovanna, MD practices Dermatology. He went to State University of New York Upstate Medical University. He received 1 awards: "Fellow (FAAD)". John Digiovanna is a published MD. He has 98 papers published. The most current publication "Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis." John Digiovanna accepts Medicare payments and is listed with Medicare.gov.
Publications
- Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients.
- Cutaneous Adverse Effects Associated With the Tyrosine-Kinase Inhibitor Cabozantinib.
- Mutations in the TTDN1 Gene are Associated with a Distinct Trichothiodystrophy Phenotype.
- Forty Years of Research on Xeroderma Pigmentosum at the US National Institutes of Health.
- Activated STING in a Vascular and Pulmonary Syndrome.
- Rapid development of migratory, linear, and serpiginous lesions in association with immunosuppression.
- Growth and Nutrition in Children with Trichothiodystrophy.
- Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients.
- High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.
- Burning issues in the diagnosis of xeroderma pigmentosum.
- Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.
- Fluorouracil and Other Predictors of Morpheaform Basal Cell Carcinoma Among High-Risk Patients: The Veterans Affairs Topical Tretinoin Chemoprevention Trial.
- Histopathology of the Inner Ear in Patients With Xeroderma Pigmentosum and Neurologic Degeneration.
- Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency.
- Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.
- Ocular Manifestations of Xeroderma Pigmentosum: Long-Term Follow-up Highlights the Role of DNA Repair in Protection from Sun Damage.
- Systemic retinoids in the management of ichthyoses and related skin types.
- Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.
- Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome.
- Shining a Light on Xeroderma Pigmentosum.
- Ocular Manifestations of Trichothiodystrophy.
- High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.
- Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature.
- Nucleotide Excision Repair Proteins Rapidly Accumulate but Fail to Persist in Human XP-E (DDB2 Mutant) Cells.
- Multiple skin cancers in adults with mutations in the XP-E (DDB2) DNA repair gene.
- Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.
- Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.
- Founder mutations in xeroderma pigmentosum.
- Fracturing support for the role of systemic retinoid therapy as a cause of bone demineralization.
- Genetic diversity in melanoma metastases from a patient with xeroderma pigmentosum.
- Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.
- 2008 International Conference on Ectodermal Dysplasias Classification: conference report.
- Approach towards a new classification for ectodermal dysplasias: integration of the clinical and molecular knowledge.
- Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.
- Skin cancers, blindness, and anterior tongue mass in African brothers.
- Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone tric...
- Xeroderma pigmentosum-variant patients from America, Europe, and Asia.
- Histopathologic characterization of epidermolytic hyperKeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders.
- KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
- Structural and molecular hair abnormalities in trichothiodystrophy.
- Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
- Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
- Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy.
- Effect of a single course of isotretinoin therapy on bone mineral density in adolescent patients with severe, recalcitrant, nodular acne.
- Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.
- Ichthyosiform dermatoses: so many discoveries, so little progress.
- Retinoid chemoprevention in high-risk skin cancer patients.
- "Curly" wood and tiger tails: an explanation for light and dark banding with polarization in trichothiodystrophy.
- Changing paradigms in dermatology: information technology.
- Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
- Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.
- Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.
- Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
- Topical enzyme therapy for skin diseases?
- The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP...
- Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.
- Topical tretinoin therapy and all-cause mortality.
- XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
- Skin cancer chemoprevention with systemic retinoids: an adjunct in the management of selected high-risk patients.
- Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1.
- Ichthyosis: etiology, diagnosis, and management.
- Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
- A thick lichenified plaque on the ventral penile shaft. Penile poroKeratosis of Mibelli.
- Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
- Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
- Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation.
- Congenital recessive ichthyosis unlinked to loci for epidermal transglutaminases.
- Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes.
- Linkage of epidermolytic hyperKeratosis to the type II keratin gene cluster on chromosome 12q.
- Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperKeratosis.
- Preferential sites in keratin 10 that are mutated in epidermolytic hyperKeratosis.
- Epidermolytic hyperKeratosis: applied molecular genetics.
- Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.
- Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q.
- Clearing of melanoma in situ with intralesional interferon alfa in a patient with xeroderma pigmentosum.
- A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma.
- Normal vitamin D levels can be maintained despite rigorous photoprotection: six years' experience with xeroderma pigmentosum.
- Clinical heterogeneity in epidermolytic hyperKeratosis.
- Sun exposure and basal cell carcinomas in the nevoid basal cell carcinoma syndrome.
- Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.
- A highly conserved lysine residue on the head domain of type II keratins is essential for the attachment of keratin intermediate filaments to the cornified cell envelo...
- Epidermolytic hyperKeratosis.
- Clinical findings in two African-American families with the nevoid basal cell carcinoma syndrome (NBCC).
- A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperKeratosis.
- The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.
- Defective DNA repair in humans: clinical and molecular studies of xeroderma pigmentosum.
- Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: a quantitative analysis by Raman microspe...
- Xeroderma pigmentosum: spinal cord astrocytoma with 9-year survival after radiation and isotretinoin therapy.
- Treatment and prevention of basal cell carcinoma with oral isotretinoin.
- Chemoprevention of skin cancer in xeroderma pigmentosum.
- Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin.
- Xeroderma pigmentosum: a nursing perspective.
- Retinoid chemoprevention in the high-risk patient.
- Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.
- Genetic approaches to understanding the keratinopathies.
- Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development.
- Posttransplantation skin cancer: scope of the problem, management, and role for systemic retinoid chemoprevention.
Schools
SUNY Upstate Medical University Syracuse
Li Jewish Hospital Hillside
University Miami
National Institute Of Health
Procedures Preformed
- Destruction of Benign Skin Lesion
Conditions Treated
- Actinic Keratosis
- Folliculitis
- Hives
- Seborrheic Keratosis
Doctors Specialties
- Dermatology
Accepted Insurances
Awards
- Fellow (FAAD)
Education
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National Institutes of Health Clinical Center -
Jackson Memorial Hospital - Jackson Health System -
North Shore-Long Island Jewish Health System -
State University of New York Upstate Medical University
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1962441527 |
| Last Name Of The Provider | DIGIOVANNA |
| First Name Of The Provider | JOHN |
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