Pigmentation anomaly of the skin

Last reviewed March 21, 2026

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ORPHA:79374

Who is this for?

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18Specialists 8Treatment centers

Where are you in your journey?

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.

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Overview

Orphanet ↗NORD ↗

FDA & Trial Timeline

2 events

Jan 2026The Effect of Skin Color Scale Material Used by Families at Home in the Postnatal Period on the Process of Hospital Admission Due to Jaundice and Breastfeeding Parameters

Istanbul University - Cerrahpasa — NA

TrialNOT YET RECRUITING

Oct 2025A Phase 4 Clinical Study to Investigate the Effectiveness and Safety of Skin Resurfacing

Bausch Health Americas, Inc. — NA

TrialACTIVE NOT RECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Pigmentation anomaly of the skin.

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Clinical Trials

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No actively recruiting trials found for Pigmentation anomaly of the skin at this time.

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Specialists

18 foundView all specialists →

MM

Michael Goggins, MD

PHILADELPHIA, PA

Specialist

Ataxia-telangiectasia Familial atypical multiple mole melanoma syndrome Familial melanoma+15 more

PI on 2 active trials

Active trials Directions Travel grants

DM

Deborah P Merke, M.D.

BETHESDA, MD

Specialist

46,XX disorder of gonadal development 46,XX gonadal dysgenesis Acromegaly+21 more

PI on 7 active trials

Active trials Directions Travel grants

KM

Kathryn N Weaver, MD

Specialist

Cardiofaciocutaneous syndrome Costello syndrome Genetic hyperpigmentation of the skin+8 more

PI on 1 active trial

Active trials Directions Travel grants

SM

Sunil Sharma, MD

Specialist

Adenocarcinoma of the cervix uteri Cancer of unknown primary site Chromophobe renal cell carcinoma+10 more

PI on 5 active trials

Active trials Directions Travel grants

HM

Houman Hemmati, MD

LOS ANGELES, CA

Specialist

Acquired peripheral movement disorder Acquired peripheral neuropathy Alopecia-intellectual disability syndrome+47 more

PI on 3 active trials

Active trials Directions Travel grants

RA

Raja Sivamani, MD MS AP

Sacramento, California

Specialist

Rare Disease Specialist

Anterior cutaneous nerve entrapment syndrome Ehlers-Danlos syndrome Genetic pigmentation anomaly of the skin+3 more

PI on 4 active trials

Active trials Directions Travel grants

MM

Marcia I. Canto, M.D.

BALTIMORE, MD

Specialist

Genetic hyperpigmentation of the skin Genetic pigmentation anomaly of the skin Peutz-Jeghers syndrome

PI on 1 active trial

Active trials Directions Travel grants

RC

Robert Sarkany, FRCP MD CCST

Specialist

Genetic pigmentation anomaly of the skin Xeroderma pigmentosum

PI on 1 active trial

Active trials Directions Travel grants

NM

Neil Bressler, MD

HOMESTEAD, FL

Specialist

Genetic pigmentation anomaly of the skin Ocular albinism Oculocutaneous albinism

PI on 1 active trial

Active trials Directions Travel grants

JF

John Weinman, PhD, FbPsS

BALTIMORE, MD

Specialist

Genetic pigmentation anomaly of the skin Xeroderma pigmentosum

PI on 1 active trial

Active trials Directions Travel grants

MF

Mary E. Frey

Specialist

Genetic pigmentation anomaly of the skin Ocular albinism Oculocutaneous albinism

PI on 1 active trial18 Pigmentation anomaly of the skin publications

Active trials Directions Travel grants

KM

Kenneth H Kraemer, M.D.

MARBLE FALLS, TX

Specialist

Familial melanoma Genetic pigmentation anomaly of the skin Xeroderma pigmentosum

PI on 1 active trial

Active trials Directions Travel grants

SP

Sameek Roychowdhury, MD, PhD

COLUMBUS, OH

Specialist

Crouzon syndrome Genetic eye tumor Genetic hypopigmentation of the skin+7 more

PI on 2 active trials

Active trials Directions Travel grants

RM

Raphaël LEJOYEUX, MD

Specialist

Genetic hypopigmentation of the skin Genetic pigmentation anomaly of the skin Ocular albinism+1 more

PI on 2 active trials

Active trials Directions Travel grants

TR

Tara Heagele, PhD, RN

Specialist

Genetic hypopigmentation of the skin Genetic pigmentation anomaly of the skin Ocular albinism+1 more

PI on 1 active trial

Active trials Directions Travel grants

AM

Andrew McGovern, MD

Specialist

Congenital herpes simplex virus infection Congenital intrinsic factor deficiency Congenital pulmonary veins anomaly+10 more

PI on 6 active trials

Active trials Directions Travel grants

FP

François Nosten, Prof.

Specialist

PI on 1 active trial

Active trials Directions Travel grants

BM

Bruce Katz, MD

Specialist

PI on 1 active trial

Active trials Directions Travel grants

Treatment Centers

8 centers

Baylor College of Medicine Rare Disease Center ↗

Baylor College of Medicine

📍 Houston, TX

Stanford Medicine Rare Disease Center ↗

Stanford Medicine

📍 Stanford, CA

NIH Clinical Center Undiagnosed Diseases Program ↗

National Institutes of Health

📍 Bethesda, MD

UCLA UDN Clinical Site ↗

UCLA Health

📍 Los Angeles, CA

Baylor College of Medicine UDN Clinical Site ↗

Baylor College of Medicine

📍 Houston, TX

Harvard/MGH UDN Clinical Site ↗

Massachusetts General Hospital

📍 Boston, MA

Mayo Clinic Center for Individualized Medicine ↗

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

UCLA Rare Disease Day Program ↗

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Pigmentation anomaly of the skin.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Pigmentation anomaly of the skin

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Caregiver Resources

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Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Pigmentation anomaly of the skin

Which specialists treat Pigmentation anomaly of the skin?

18 specialists and care centers treating Pigmentation anomaly of the skin are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.