Results 121 to 130 of about 22,870 (235)

Health‐Related Quality of Life and Symptom Severity Among Patients With PIK3CA‐Related Overgrowth Spectrum: A Mixed‐Methods Study to Understand Real‐World Experience With Alpelisib Treatment

Pediatric Blood &Cancer, Volume 73, Issue 8, August 2026.
ABSTRACT Background PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.
Vamsi Bollu, Kaitlin LaGasse, Cory D. Saucier, Kimberly Raymond, Miranda Lauher‐Charest, Lauren Crowder, Beilei Cai, Mary Lisha Paul, Denise Adams   +8 more
wiley   +1 more source

Phacomatosis cesioflammea with extracutaneous involvement in a Filipino child. [PDF]

JAAD Case Rep
Ramirez MN, Tan CC, Nicolas MEO.
europepmc   +1 more source

A Solitary, Painless Nodule on the Arm of an Adolescent Male

Pediatric Dermatology, EarlyView.
Ting Dan Zhang, Peter Pavlidakey, Ravi Hiremagalore   +2 more
wiley   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1934-1941, August 2026.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Case Report: Atypical (CD34-) nevus lipomatosus cutaneous superficialis with fibroblastic nodular hyperplasia on the knee. [PDF]

Front Physiol
Huang N, Li Y, Li L, Wang T.
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Melanoma Arising in a Medium-Sized Congenital Melanocytic Nevus: A Case Report. [PDF]

Cureus
Nishimura K, Yamamura Y, Usui S, Fujii K, Otsuka A.   +4 more
europepmc   +1 more source

What Is Your Diagnosis? Dermal Mass From the Left Forelimb of a Dog

Veterinary Clinical Pathology, EarlyView.
Heather D. McDavid, Miranda D. Vieson, Robert Armentano, Nicholas T. Noto   +3 more
wiley   +1 more source

Cutis Verticis Gyrata Across the Diagnostic Spectrum: Two Cases Highlighting Challenges in Clinical Classification

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Cutis verticis gyrata (CVG) is an uncommon disorder characterized by cerebriform thickening of the scalp that may occur as a primary condition or secondary to a variety of systemic disorders. We report two patients with clinically distinct presentations of CVG illustrating the diagnostic challenges encountered during classification.
Sanket Bishokarma, Shiwani Sharma Acharya, Goma Dhami   +2 more
wiley   +1 more source

Multiple superficial lipomatous nevi coexisting with a verrucous nevus: a case report. [PDF]

Front Med (Lausanne)
Chen L, Zeng W, Zhu G, Zhang K.
europepmc   +1 more source