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Clin Pediatr (Phila) 2023 Jul 18:99228231187482. Epub 2023 Jul 18.

Department of Pediatrics and Pediatric Hematology and Oncology, Istanbul Medeniyet University Goztepe Prof Dr Suleyman Yalcin City Hospital, Istanbul, Turkey.

Pediatr Dermatol 2023 Jul 13. Epub 2023 Jul 13.

Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

Background/objectives: Cutis marmorata telangiectatica congenita (CMTC) is a capillary malformation characterized by congenital, reticulated, well-demarcated dark blue, red-purple, or violaceous macules or plaques, with a coarse fixed livedo pattern. Nearly always, contiguous areas of skin atrophy and/or ulceration are present. CMTC is usually localized but may rarely be generalized. Read More

Pediatr Dermatol 2023 ;40(3):565-567

Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.

Indian Dermatol Online J 2023 14;14(2):268-270. Epub 2022 Dec 14.

Department of Skin and V. D., K. E. M. Hospital, Mumbai, Maharashtra, India.

Cureus 2023 Mar 5;15(3):e35776. Epub 2023 Mar 5.

Dermatology, King Abdulaziz Hospital Makkah, Makkah, SAU.

Diffuse capillary malformation with overgrowth (DCMO) is a rare condition that is characterized by capillary malformation and soft tissue hypertrophy. Here we report the case of a one-year-old male child with no past medical history who presented with skin lesions persistent since birth and associated with no symptoms. There were widespread non-scaly reticulated erythematous patches all over his body, including the abdominal wall. Read More

Pediatr Neonatol 2023 Mar 15. Epub 2023 Mar 15.

Department of Pediatrics, MGIMS, Sevagram, India.

Front Pediatr 2023 3;11:1059658. Epub 2023 Mar 3.

Neonatal Department, Guangdong Women and Children Hospital, Guangzhou, China.

Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominantly inherited disease characterized by slow mental and physical growth, skeletal abnormalities (broad thumbs and big toes), and dysmorphic facial features. RSTS is associated with variants of the epigenetic-associated gene CREBBP. RSTS is primarily diagnosed based on clinical manifestations and genetic testing. Read More

Dermatologie (Heidelb) 2023 May 17;74(5):310-315. Epub 2023 Mar 17.

Universitäts-Hautklinik, Hauptstr. 7, 79104, Freiburg, Deutschland.

Autosomal dominant transmission with sex-limited manifestation represents a previously unrecognized mode of inheritance. The white lentiginosis of Grosshans exclusively occurs in females, whereas male gene carriers remain clinically unaffected but can transmit the underlying mutation to their offspring. There are some other examples: Hereditary bilateral lymphedema of the CELSR1 type that only occurs in females, too. Read More

Am J Med Genet A 2023 May 25;191(5):1442-1446. Epub 2023 Jan 25.

Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.

Capillary malformations are slow-flow vascular malformations that affect the microcirculation including capillaries and post capillary venules and can be associated with growth differences. Specifically, the association of capillary malformations with undergrowth is a vastly understudied vascular syndrome with few reports of genetic causes including PIK3CA, GNAQ, and GNA11. Recently, a somatic pathogenic variant in AKT3 was identified in one child with a cutaneous vascular syndrome similar to cutis marmorata telangiectatica congenita, undergrowth, and no neurodevelopmental features. Read More

BMJ Case Rep 2022 Dec 26;15(12). Epub 2022 Dec 26.

Department of Obstetrics and Gynecology, Medical College of Wisconsin, Wauwatosa, Wisconsin, USA

Hemimegalencephaly (HME) is a rare neurological diagnosis defined as hamartomatous overgrowth of one cerebral hemisphere. The hypothesised pathogenesis is due to an increased number or size of neural cells; however, the exact mechanism can vary widely, depending on the underlying aetiology. We report a case outlining the prenatal diagnostic process and obstetric considerations for delivering an infant with HME secondary to megalencephaly-capillary malformation syndrome. Read More

Eur J Med Genet 2023 Feb 9;66(2):104678. Epub 2022 Dec 9.

Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, Dijon, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Hôpital d'Enfants, Dijon, France; Equipe GAD, INSERM UMR1231, Université de Bourgogne, Dijon, France.

Background: Subjects with Megalencephaly-Capillary Malformation-Polymicrogyria syndrome (MCAP) can present with a Chiari Malformation Type 1 and resulting alterations in cerebrospinal fluid (CSF) dynamics, which may require surgical treatment. The aim of this paper is to describe the features of children with MCAP who underwent surgical decompression for CM1, and to explore the PIK3CA variant allele frequency (VAF) identified in cerebellar parenchyma and other adjacent structures.

Methods: This study reviewed two cases of children with CM1 and MCAP who underwent surgical decompression treatment. Read More

Ophthalmic Surg Lasers Imaging Retina 2022 Nov 1;53(11):647. Epub 2022 Nov 1.

Korean J Ophthalmol 2022 Dec 11;36(6):570-571. Epub 2022 Oct 11.

Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Adv Ther 2022 Sep 20;39(9):3871-3880. Epub 2022 Jul 20.

Center for Integrative Brain Research, Seattle Children's Research Institute, 1900 9th Avenue, Seattle, WA, 98101, USA.

PIK3CA-related overgrowth spectrum (PROS) disorders are caused by somatic, gain-of-function mutations in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) that result in hyperactivation of the phosphatidylinositol-3-kinase (PI3K) signaling pathway. PROS encompasses a broad spectrum of overlapping phenotypes that vary considerably in their severity and tissue distribution, leading to different and complex experiences for affected children and their families. The parent of a child with the PROS disorder megalencephaly-capillary malformation (MCAP) coauthored this article. Read More

J Pediatr Hematol Oncol 2023 Jan 9;45(1):e128-e130. Epub 2022 Jun 9.

Department of Genetics and Genome Sciences, Case Western Reserve University.

Biallelic variants in DI3SL2 cause Perlman Syndrome, associated increased risk for Wilms tumor. Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare congenital disorder characterized by cutaneous vascular anomalies. We report a 2-year-old boy with both Wilms tumor and CMTC. Read More

Cold Spring Harb Mol Case Stud 2022 Apr 28;8(3). Epub 2022 Apr 28.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington 98101, USA.

The megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth disorder caused by mosaic gain-of-function variants in It is characterized by megalencephaly or hemimegalencephaly, vascular malformations, somatic overgrowth, among other features. Epilepsy is commonly associated with MCAP, and a subset of individuals have cortical malformations requiring resective epilepsy surgery. Like other mosaic disorders, establishing a molecular diagnosis is largely achieved by screening lesional tissues (such as brain or skin), with a low diagnostic yield from peripheral tissues (such as blood). Read More

Eur J Med Genet 2022 May 26;65(5):104472. Epub 2022 Mar 26.

Department of Dermatology, Medical Center - University of Freiburg, Freiburg, Germany. Electronic address:

Cutis marmorata telangiectatica congenita (CMTC) is characterized by coarse-meshed capillary malformations arranged in asymmetrically distributed patches. The disorder may be associated with hyper- or hypoplastic limbs, syndactyly, cleft palate, and glaucoma. Because the disease usually occurs sporadically, the concept of a lethal mutation surviving by mosaicism was proposed about 30 years ago. Read More

Am J Med Genet A 2022 Jun 2;188(6):1792-1800. Epub 2022 Mar 2.

Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.

Somatic and germline PI3K-AKT-mTOR pathway pathogenic variants are involved in several segmental overgrowth phenotypes such as the PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, and PTEN hamartoma tumor syndrome. In this study, we describe five patients with PROS. We identified by high-throughput sequencing four different somatic PIK3CA pathogenic variants in five individuals. Read More

Birth Defects Res 2022 Mar 12;114(5-6):208-210. Epub 2022 Feb 12.

Institute of Postgraduate Medical Education and Research, Kolkata, West Bengal, India.

Acta Dermatovenerol Croat 2020 Dec;28(4):247-248

Department of Dermatology, University General Hospital of Patras, Rion, Greece, Greece;

A full-term, 2-day-old female neonate with a congenital non-tender reticular patch that did not disappear with local warming was referred to our department for consultation. The family history as well as the antenatal course and delivery were unremarkable. On examination, we evidenced a fixed, marbled, bluish to deep purple lesion with a fishnet appearance extending over the right side of her body, face, and scalp. Read More

J Cosmet Laser Ther 2020 Jul 14;22(4-5):177-179. Epub 2021 Feb 14.

Department of Dermatology, Cleveland Clinic, Cleveland, OH, USA.

Cutis marmorata telangiectatica congenita (CMTC) is a rare vascular disorder characterized by blue-purple reticulated patches and plaques that can be localized or generalized. Associated skin atrophy and soft tissue hypoplasia is common while ulceration is relatively uncommon. As CMTC is exceedingly rare and spontaneous remission in childhood can occur in mild cases, evidence for treatment of severe, refractory disease is limited. Read More

Clin Genet 2021 May 20;99(5):650-661. Epub 2021 Jan 20.

Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.

Megalencephaly-CApillary malformation-Polymicrogyria (MCAP) syndrome results from somatic mosaic gain-of-function variants in PIK3CA. Main features are macrocephaly, somatic overgrowth, cutaneous vascular malformations, connective tissue dysplasia, neurodevelopmental delay, and brain anomalies. The objectives of this study were to describe the clinical and radiological features of MCAP, to suggest relevant clinical endpoints applicable in future trials of targeted drug therapy. Read More

Skinmed 2020 1;18(6):395. Epub 2020 Dec 1.

Department of Dermatology, University of Illinois College of Medicine, Chicago, IL.

Am J Med Genet A 2021 Mar 7;185(3):850-855. Epub 2020 Dec 7.

Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

Cell division cycle 42 (CDC42) is a small Rho GTPase, which serves as a fundamental intracellular signal node regulating actin cytoskeletal dynamics and several other integral cellular processes. CDC42-associated disorders encompass a broad clinical spectrum including Takenouchi-Kosaki syndrome, autoinflammatory syndromes and neurodevelopmental phenotypes mimicking RASopathies. Dysregulation of CDC42 signaling by genetic defects in either DOCK6 or ARHGAP31 is also considered to play a role in the pathogenesis of Adams-Oliver syndrome (AOS). Read More

Case Rep Pediatr 2020 7;2020:8813809. Epub 2020 Oct 7.

Pediatric Institute, Kuala Lumpur General Hospital, Kuala Lumpur, Malaysia.

Cutis marmorata telangiectatica congenita is characterized by the presence of a bluish-purple reticulated cutaneous vascular network on the skin intermixed with telangiectasia and occasionally prominent veins at birth. Areas of the skin within the reticulated cutaneous vascular network may be normal, erythematous, atrophic, and, at times, ulcerated. Areas of ulcerations and focal cutaneous and subcutaneous atrophy occasionally occur resulting in body asymmetry. Read More

Dermatol Online J 2020 Jun 15;26(6). Epub 2020 Jun 15.

Center for Dermatology Research, Department of Dermatology, Wake Forest School of Medicine, Winston-Salem, NC.

Cutis marmorata telangiectatica congenita (CMTC) is a rare, congenital, vascular disorder that may sometimes be associated with ulcerations of the involved skin. We present a case of CMTC, asymptomatic since birth, that began developing painful ulcerations during adolescence. Although laser therapy may benefit the superficial aspect of this vascular anomaly, the presence of deeper involvement in lesions with ulcerations may not respond favorably to laser therapy and the best approach needs to be further evaluated. Read More

Pediatr Dermatol 2020 Sep 4;37(5):979-980. Epub 2020 Aug 4.

Department of Dermatology, Rutgers Robert Wood Johnson Medical School, Somerset, NJ, USA.

Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital cutaneous vascular anomaly with a reticular marbled erythematous pattern, which can result in isolated benign skin lesions or less commonly be associated with systemic anomalies. Occasionally, the characteristic pattern of CMTC lesions is masked on initial presentation, creating a diagnostic conundrum that can result in unnecessary workups to rule out vasculopathy. We present the case of a female newborn with a red-blue ulcerated skin lesion on the right leg and foot, which initially appeared as retiform purpura but evolved to exhibit the mottled pattern of CMTC by 5 days of age. Read More

Arch Dis Child Fetal Neonatal Ed 2021 Jan 6;106(1):75. Epub 2020 Jul 6.

Paediatrics, Stoke Mandeville Hospital, Aylesbury, Buckinghamshire, UK.