Phacomatosis Cesiomarmorata with Hypospadias, Seizures, Limb Length Discrepancy, Plagiocephaly, and Ocular Abnormalities: A Case Report with Rare Associations
Year: 2025
Type: article
Study design: Case Report
Abstract: Dear Madam, A 4-year-old boy was admitted in the pediatric emergency ward as a case of seizure disorder. Dermatological opinion was requested in view of his skin changes. The patient had a history of generalized tonic-clonic seizure for the last 1 year and was admitted for evaluation of the same. He was born out of a nonconsanguineous marriage, in a fraternal twin pregnancy. It was an institutional full-term normal vaginal delivery, but the child had a history of neonatal intensive care unit stay for 25 days (as a case of neonatal septicemia). There was no history of developmental delay and was fully immunized as per his age. There was no history of trauma or surgical intervention. General physical examination was within normal limits except for mild pallor. On cutaneous examination, there was the presence of fixed, blanchable reticulate erythema over the face, trunk, and bilateral upper and lower limbs, suggestive of cutis marmorata telangiectatica congenita (CMTC) [Figure 1]. Furthermore, there was the presence of Mongolian spots over the lower back and lumbosacral region [Figure 2]. Ocular abnormalities included buphthalmos and melanosis oculi [Figure 3]. Further, there was the presence of hypospadias [Figure 4], limb length discrepancy (left [L] > right [R] ≈ 2 cm) [Figure 5], and skull abnormalities (plagiocephaly) [Figure 6]. Routine investigations were noncontributory. Electroencephalogram, computed tomography (head), and magnetic resonance imaging (brain) was unremarkable. Ophthalmological consultation was sought, which revealed megalocornea, bilateral glaucoma (intraocular pressure: 30 in L and 27 in R), and decreased visual activity (6/24 [L] and 6/30 [R]). He later underwent surgical intervention (trabeculectomy) for the same, and postoperatively, there was a gradual improvement in vision (6/12 [L] and 6/18 [R]) at 2-month follow-up. The other twin brother (fraternal) was unaffected.Figure 1: Extensive cutis marmorata telangiectatica over face (a), trunk and upper limbs (b) and lower limbsFigure 2: Mongolian spots over back and lumbosacral region (black arrow)Figure 3: Melanosis oculi (blue arrow)Figure 4: Hypospadias (yellow arrow)Figure 5: Discrepancy in limb length (L>R)Figure 6: Plagiocephaly (red arrow)The term phakomatosis refers to a developmental malformation simultaneously affecting the skin, eye, and central nervous system. Phacomatosis pigmentovascularis (PPV) is a rare genodermatosis characterized by a combination of a capillary malformation with pigmented nevi of various types, with or without extracutaneous manifestations.[1] Phacomatosis cesiomarmorata is a subtype of PPV described by Happle (type V PPV) and is characterized by the presence of CMTC and dermal melanocytosis.[2] Due to its rarity, the true prevalence of PPV is unknown. PPV is a clinical diagnosis based on combination of associated cutaneous findings. It is a mosaic developmental abnormality. Sporadic mutations of GNA11 and GNAQ genes, encoding Gα-subunit of G-proteins are documented in PPV.[3] These genetic mutations have been detected in the affected tissues, but are not detected in blood, suggesting a postzygotic mosaic disorder.[3] No treatment is needed for capillary malformation or dermal melanosis. If desired for cosmetic reasons, lasers (PDL/Q-switched) can be used. The recurrence risk of PPV in subsequent pregnancies is close to zero, as it is a mosaic disorder with normal egg and sperm. This is true for both the parents of the affected child and the affected child’s future offspring. This case is presented on account of its unique constellation of additional extracutaneous associations with phacomatosis cesiomarmorata: and, to the best of our knowledge, few of them (like skull abnormalities) have not been described previously in literature. This may further expand the clinical spectrum of this rare disorder. Declaration of patient consent The authors certify that they have obtained all appropriate consent forms, duly signed by the parent(s)/guardian(s) of the patient. In the form, the parent(s)/guardian(s) has/have given his/her/their consent for the images and other clinical information of their child to be reported in the journal. The parents understand that the names and initials of their child/children will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.
Authors: Nidhi Sharma, Surjeet Kumar, Vipul Khajuria
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7117585105