The patient was a 7-year-old child of gypsy origin, with no relevant personal history, who presented with progressively developing, asymptomatic, hyperpigmented lesions, first observed 11 months earlier. The lesions had started to appear on the upper part of the trunk and had shown a centrifugal progression, becoming generalized over the course of a few months. No triggering event was identifie...

BACKGROUND Neonatal adrenoleucodystrophy (NALD) is a rare disorder resulting from abnormal peroxisomal biogenesis. Affected patients present in infancy with developmental delay, hypotonia, and seizures. Blindness and nystagmus are prominent features. The authors suggest a characteristic leopard spot pigmentary pattern in the peripheral retina to be diagnostic. METHODS Three patients are repor...

Background and purpose: Melasma is a common skin pigmentation disorder that manifests as hyperpigmented macules and patches. Genetic predisposition, sun exposure, and pregnancy are known risk factors for melasma. Previous studies have suggested that thyroid disorders may be associated with melasma. Given the fact that vitamin D affects and stimulates the production of melanin by melanocytes, th...

introduction oculocutaneous albinism (oca) is a genetically heterogeneous autosomal recessive genetic disorder that is characterized by reduced or completely absent pigmentation in the hair, skin, and eyes. conclusions a novel homozygous mutation, the deletion of exons 1 - 5 on the tyr gene, was found on the molecular genetic testing of this patient. exon 1 - 5 deletion on tyr causes a lack of ...

Bannayan-Riley-Ruvalcaba syndrome is a rare condition caused by mutation in the PTEN gene. It can cause pigmentation defects, hamartoma and behavioural abnormalities. We report the case of a 10-yearold boy with short stature, pigmented maculae on the glans penis, obsessive-compulsive disorder and macrocephaly. The case is presented due to the rarity of the condition and its predisposition to tu...

Pallister-Killian syndrome (PKS) is a rare, sporadic, multisystem developmental disorder characterized by craniofacial dysmorphic features. We report a case of a two-year-old boy with PKS to highlight the cutaneous findings and emphasize the importance of diagnostic skin biopsies in patients with cutaneous pigmentation changes and distinctive facial features.

Peutz–Jeghers syndrome (PJS) is a rare genetic disorder characterized by multiple gastrointestinal polyps and mucocutaneous pigmentation. Abnormal pigmentation typically develops in infancy or childhood. As PJS-related facial can lead to psychological burden due its effects on esthetics, treatment required. Herein, we report the efficacy safety of lip mucosal using Q-switched 755 nm Alexandrite...

Dowling-Degos disease is a rare autosomal dominant inherited pigmentary disorder characterized by reticulate pigmentation of the flexures, prominent comedone like lesions and pitted scars. Dyschromatosis universalis hereditaria is characterized by the presence of hypopigmented as well as hyperpigmented macules. We report a family showing features of both these diseases.