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6 Results Found

  • Case Report
  • Open Access
7 Citations
4,616 Views
5 Pages

Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome

  • Trinidad Montero-Vilchez,
  • Alexandra Remon-Love,
  • Jesús Tercedor-Sánchez and
  • Salvador Arias-Santiago

Griscelli syndrome (GS) is a rare disease that is characterized by silvery hair and fair skin. It is included in congenital grey hair syndromes, a rare group of autosomal recessive disorders characterized by silvery grey hair and severe multisystem d...

  • Case Report
  • Open Access
12 Citations
8,947 Views
7 Pages

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes

  • Laura Cristina Gironi,
  • Francesca Zottarelli,
  • Gianfranco Savoldi,
  • Lucia Dora Notarangelo,
  • Maria Eleonora Basso,
  • Ivana Ferrero,
  • Fabio Timeus,
  • Franca Fagioli,
  • Luigi Maiuri and
  • Paola Savoia
  • + 1 author

25 March 2019

The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary diseases, clinically characterized by inborn pigmentary defects of the iris, hair, and/or skin. They include Gray Hair Syndromes (GHSs), a rare group of a...

  • Review
  • Open Access
59 Citations
10,560 Views
18 Pages

21 December 2020

The epidermis is located in the outermost layer of the living body and is the place where external stimuli such as ultraviolet rays and microorganisms first come into contact. Melanocytes and melanin play a wide range of roles such as adsorption of m...

  • Review
  • Open Access
20 Citations
6,465 Views
26 Pages

21 November 2022

Lysosome-related organelles (LROs) are a group of functionally diverse, cell type-specific compartments. LROs include melanosomes, alpha and dense granules, lytic granules, lamellar bodies and other compartments with distinct morphologies and functio...

  • Article
  • Open Access
11 Citations
6,482 Views
8 Pages

23 September 2021

A 1-month-old, female, smooth-haired miniature Dachshund with dilute color and neurological defects was investigated. The aim of this study was to characterize the clinical signs, histopathological changes and underlying genetic defect. The puppy had...

  • Systematic Review
  • Open Access
930 Views
16 Pages

A Systematic Review of Cutaneous Hypopigmentation Disorder Associated with Neurologic Involvement

  • Piero Pavone,
  • Xena Giada Pappalardo,
  • Francesca Scrofani,
  • Raffaele Falsaperla,
  • Francesco Pizzo,
  • Agata Polizzi,
  • Antonio Corsello,
  • Maria Chiara Consentino,
  • Enrico Parano and
  • Martino Ruggieri

28 November 2025

Background/Objectives: Cutaneous hypopigmentation is a common clinical sign observed in a variety of disorders. It may be congenital or acquired, localized or diffuse, and can range from benign to being associated with systemic conditions, including...