Tuberous sclerosis and cutaneous stigmata: ever-expanding spectrum

Madaan, Priyanka; Saini, Lokesh; Sankhyan, Naveen; De, Dipankar; Kesavan, Shivan; Mukherjee, Swetlana; Vaiphei, Kim; Ahuja, Chirag

doi:10.1136/archdischild-2019-317218

Cited by 6 publications

(10 citation statements)

References 4 publications

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“…It appears at birth or during infancy, commonly in males, over the scalp, abdomen, lumbar region, thighs, and face. [ 1 2 3 4 5 ] Although our patient developed FCCH at a later age and lacked cystic protuberances, the prominent comedonal openings draining keratinous material were suggestive of FCCH. Of the 14 reported cases (including ours), six are female, thus contradicting the earlier assumption of male gender predilection and questioning the role of sex hormones in its development.…”

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confidence: 78%

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Folliculocystic and Collagenous Hamartoma

Sathishkumar

Shajil

Baitule

et al. 2022

Indian Journal of Dermatology

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confidence: 78%

“…The FCCH is one such benign tumour with intriguing clinicopathological features, reported in 13 cases of TSC since 2012. [ 1 2 3 4 ]…”

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confidence: 99%

Folliculocystic and Collagenous Hamartoma

Sathishkumar

Shajil

Baitule

et al. 2022

Indian Journal of Dermatology

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“…30 Variant-opathy p.E198K is predominantly associated with epilepsy phenotype but the long-term outcomes of With the evolving gamut of manifestations seen in different phosphorylation/dephosphorylation pathway aberrations, a possibility of these aberrations should be considered in children with macrocephaly and neurodevelopmental disorders including DEE with or without neurocutaneous stigmata. 8,30,31 Pattern recognition and early suspicion is the key to diagnosis.…”

Section: Discussionmentioning

confidence: 99%

PPP2R5D-Related Neurodevelopmental Disorder or Developmental and Epileptic Encephalopathy?: A Novel Phenotypic Description and Review of Published Cases

et al. 2021

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Background Protein phosphatase 2 regulatory subunit B′ delta (PPP2R5D)-related neurodevelopmental disorder is caused by pathogenic variations in the PPP2R5D gene, product of which is involved in dephosphorylation. This is a rare disorder with description limited to case reports. Its phenotypic spectrum has expanded over the last decade. Methods We report a child with a developmental and epileptic encephalopathy phenotype with a pathogenic PPP2R5D variant. This phenotype has not been previously reported. We also reviewed the previously published reports of patients with this disorder. Results Including the index child, 28 cases (15 girls) were identified from nine relevant research items for analysis. All patients had developmental delay. History of seizures was observed in seven patients while macrocephaly was seen in nearly 80% of patients. Nonneurological manifestations were observed in 13 patients with the most common one being ophthalmological manifestations. The most common genetic variation was c.G592A (p.E198K). The common phenotypic associations of this variation were developmental delay, macrocephaly (11/15), and epilepsy (6/15). Conclusion PPP2R5D gene variations should be suspected in children with developmental delay, autistic features, macrocephaly with or without epilepsy in the absence of any clear etiology. Dysmorphic features might provide a diagnostic clue. DEE phenotype may also be the presenting feature and might be an underreported entity.

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“…[9][10][11] Similarities between Linear Sebaceous Nevus Syndrome, another kind of hamartoses and Tuberous Sclerosis have been described in the past 12 and recently, newer osseocutaneous manifestations with TSC have also been described. 13 Progress of LVEN from being macerated to pinkish color can be explained by the initial maceration due to amniotic fluid hydration in utero followed by quick keratinization. 14 In our case, despite LVEN, presence of other classic features related to TSC prompted the diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Neonatal Tuberous Sclerosis: is skin really the window?

Kulkarni¹,

El-Atawi²,

Elhalik³

2021

JPNC

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We report a case of a neonate who was diagnosed to have intracardiac mass as a fetus and presented with white linear papules that was diagnosed to be Linear Verrucous Epidermal Nevus. Apart from the intracardiac mass, most likely rhabdomyoma, MRI Brain also showed presence of tubers and the Next Generation Sequence Analysis confirmed the diagnosis of Neonatal Tuberous Sclerosis. The neonate remained asymptomatic and was discharged home and remains under close follow up without any symptoms. It is thus suggested that Linear Verrucous Epidermal Nevus, a cutaneous manifestation not described with Tuberous Sclerosis could be considered under the ever-expanding cutaneous signs of Tuberous Sclerosis and should alert the physician toward its possibility.

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Tuberous sclerosis and cutaneous stigmata: ever-expanding spectrum

Cited by 6 publications

References 4 publications

Folliculocystic and Collagenous Hamartoma

Folliculocystic and Collagenous Hamartoma

PPP2R5D-Related Neurodevelopmental Disorder or Developmental and Epileptic Encephalopathy?: A Novel Phenotypic Description and Review of Published Cases

Neonatal Tuberous Sclerosis: is skin really the window?

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