AME case reports · 2024
Phakomatosis pigmentovascularis type 2a: a rare case report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Dilli Ahmed, AlDosari Rawan, Altowayan Ruba, Alfouzan Yasmeen, Shadid Asem, Alakrash Lamia
Аннотация
BACKGROUND: Phakomatosis pigmentovascularis (PPV) is a rare congenital cutaneous syndrome characterized by capillary malformation and extensive dermal melanosis. The complexity of PPV is reflected in its evolving classification systems. Systemic manifestations encompass ocular, neurological, vascular, musculoskeletal, and renal involvement. The pathogenesis, linked to abnormalities in neural cell development and migration, contributes to the varied clinical features of PPV. We describe a rare case of a 21-month-old Saudi girl who presented to our clinic with features of PPV type 2a.
CASE DESCRIPTION: A 21-month-old Saudi girl presented to the clinic with erythematous to violaceous patches and diffuse greyish patches over her back and buttocks since birth. Examination revealed port-wine stains, extensive Mongolian spots, and a slight lower limb length discrepancy. The mother reported a single febrile seizure episode previously. The patient underwent an ophthalmological examination where the overall impression was unremarkable. She was referred to Pediatric Neurology for further investigation.
CONCLUSIONS: PPV manifests through the simultaneous presence of vascular and melanocytic components. The classification of PPV has evolved over time, incorporating additional types and simplified groupings. Our case aligns with PPV type 2a and underscores the necessity for investigations considering potential systemic complications. Despite the generally benign course of PPV, tailored interventions, such as laser therapy, prove valuable for cosmetic improvement. The importance of regular follow-ups and collaboration among medical specialties, especially in Neurology, Ophthalmology, and Vascular surgery, is necessary for comprehensive care of individuals with PPV.
CASE DESCRIPTION: A 21-month-old Saudi girl presented to the clinic with erythematous to violaceous patches and diffuse greyish patches over her back and buttocks since birth. Examination revealed port-wine stains, extensive Mongolian spots, and a slight lower limb length discrepancy. The mother reported a single febrile seizure episode previously. The patient underwent an ophthalmological examination where the overall impression was unremarkable. She was referred to Pediatric Neurology for further investigation.
CONCLUSIONS: PPV manifests through the simultaneous presence of vascular and melanocytic components. The classification of PPV has evolved over time, incorporating additional types and simplified groupings. Our case aligns with PPV type 2a and underscores the necessity for investigations considering potential systemic complications. Despite the generally benign course of PPV, tailored interventions, such as laser therapy, prove valuable for cosmetic improvement. The importance of regular follow-ups and collaboration among medical specialties, especially in Neurology, Ophthalmology, and Vascular surgery, is necessary for comprehensive care of individuals with PPV.