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Related Concept Videos

Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
Cushing Syndrome I: Introduction01:26

Cushing Syndrome I: Introduction

Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Adrenal Gland Disorders01:27

Adrenal Gland Disorders

Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
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Renal Corpuscle

The glomerulus and Bowman's capsule are two essential components of the nephron, which is the functional unit of the kidney. These microscopic structures play a critical role in the process of blood filtration to produce urine.
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Related Experiment Video

Updated: May 29, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
12:47

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Published on: February 3, 2012

Cowden syndrome.

Abderrahmen Masmoudi1, Zied Mohamed Chermi, Slaheddine Marrekchi

  • 1Department of Dermatology, Hedi Chaker University Hospital, 3029 Sfax, Tunisia.

Journal of Dermatological Case Reports
|September 3, 2011
PubMed
Summary

Cowden syndrome, a rare hamartoma disorder, presents with characteristic mucocutaneous lesions. Oral retinoids showed efficacy on skin lesions, but no cancers were detected in this patient cohort.

Keywords:
Cowden syndromePTENacitretinetretinategenodermatosisgingivahamartomaoral mucous membranepapilloma

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Published on: September 8, 2023

Area of Science:

  • Dermatology
  • Genetics
  • Oncology

Background:

  • Cowden syndrome is a rare genodermatosis characterized by multiple hamartomas.
  • This study aimed to delineate the clinical, therapeutic, and prognostic aspects of Cowden syndrome.

Observation:

  • Four patients (2 male, 2 female, ages 14-46) with Cowden syndrome were analyzed.
  • Clinical findings included facial papules, acral keratosis, oral papules, papillomatosis, gingival hypertrophy, and scrotal tongue.
  • Associated findings were thyroid lesions, breast fibrocystic disease, lipoma, glycogenic acanthosis, macrocephaly, dysmorphic face, and lichen nitidus.

Findings:

  • All patients exhibited pathognomonic mucocutaneous lesions.
  • Oral retinoids (etretinate, acitretine) provided temporary efficacy for cutaneous lesions in two patients.
  • Topical tretinoin showed partial improvement in skin lesions but not mucosal lesions.
  • No evidence of cancer was observed in the study cohort.

Implications:

  • The study highlights the varied clinical manifestations of Cowden syndrome.
  • A novel association between Cowden syndrome and lichen nitidus was identified.
  • Oral retinoids demonstrate potential therapeutic benefit for cutaneous manifestations.