# Skin Hypopigmentation in Hematology Disorders

**Authors:** Roberto Mazzetto, Paola Miceli, Alvise Sernicola, Jacopo Tartaglia, Mauro Alaibac

PMC · DOI: 10.3390/hematolrep16020036 · 2024-06-04

## TL;DR

This paper reviews how skin hypopigmentation can indicate underlying blood disorders, focusing on conditions like vitiligo and morphea.

## Contribution

The paper provides a comprehensive review of hypopigmentation's role in diagnosing hematological disorders, emphasizing immune and genetic factors.

## Key findings

- Vitiligo is linked to immune responses involving CD8+ T cells and IFN-γ.
- Morphea may indicate hematological involvement, especially in deep or post-radiotherapy cases.
- Syndromic albinism is associated with genetic mutations and hematologic abnormalities.

## Abstract

Hypopigmentation disorders pose significant diagnostic challenges in dermatology, sometimes reflecting underlying hematological conditions. This review explores the clinical presentations related to hypopigmentation in hematological disorders, focusing on vitiligo, morphea, and syndromic albinism. Vitiligo, an autoimmune disorder targeting melanocytes, involves interactions between genetic polymorphisms and immune responses, particularly regarding CD8+ T cells and IFN-γ. Drug-induced vitiligo, notably by immune checkpoint inhibitors and small-molecule targeted anticancer therapies, underscores the importance of immune dysregulation. Morphea, an inflammatory skin disorder, may signal hematological involvement, as seen in deep morphea and post-radiotherapy lesions. Syndromic albinism, linked to various genetic mutations affecting melanin production, often presents with hematologic abnormalities. Treatment approaches focus on targeting the immune pathways specific to the condition, and when that is not possible, managing symptoms. Understanding these dermatological manifestations is crucial for the timely diagnosis and management of hematological disorders.

## Linked entities

- **Proteins:** IFNG (interferon gamma)
- **Diseases:** vitiligo (MONDO:0008661), morphea (MONDO:0019562)

## Full-text entities

- **Genes:** IFNG (interferon gamma) [NCBI Gene 3458] {aka IFG, IFI, IMD69}
- **Diseases:** immune dysregulation (OMIM:614878), inflammatory (MESH:D007249), autoimmune disorder (MESH:D001327), Syndromic albinism (MESH:D000417), Morphea (MESH:D012594), Vitiligo (MESH:D014820), Hematology Disorders (MESH:D006402), Hypopigmentation disorders (MESH:D017496), skin disorder (MESH:D012871)
- **Chemicals:** melanin (MESH:D008543)

## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11204138/full.md

---
Source: https://tomesphere.com/paper/PMC11204138