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Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy Due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First Year

research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year

1 citations , June 2022 in “JCRPE”

Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.

research Expansion of specialized epidermis induced by hormonal state and mechanical strain

3 citations , February 2015 in “Mechanisms of development”

Hormones and stretching both needed for nipple area skin growth in mice.

research Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis‐Like Features: A Case Report and Literature Review

June 2026 in “Clinical Case Reports”

Early recognition and treatment of multiple carboxylase deficiency with biotin can prevent serious health issues in infants.

research Polycystic ovary syndrome and insulin-resistant hyperinsulinemia

60 citations , September 2001 in “Journal of the American Academy of Dermatology”

Insulin resistance contributes to hormone imbalances in many women with polycystic ovary syndrome.

Ectopic Expression of the Nude Gene Induces Hyperproliferation and Defects in Differentiation: Implications for the Self-Renewal of Cutaneous Epithelia

research Ectopic Expression of the nude Gene Induces Hyperproliferation and Defects in Differentiation: Implications for the Self-Renewal of Cutaneous Epithelia

69 citations , August 1999 in “Developmental biology”

The nude gene causes skin cell overgrowth and improper development, leading to hair and urinary issues.

research Tricholemmoma and tricholemmal carcinoma and Cowden syndrome

June 2019

Tricholemmoma is linked to Cowden syndrome and can be benign or malignant.

Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature

research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature

December 2024 in “Livers”

Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.

Semiquantitative Assessment of Hirsutism in 850 Patients with Polycystic Ovary Syndrome and 2,988 Control Women in China

research Półilościowa ocena hirsutyzmu u 850 pacjentek z zespołem policystycznych jajników i 2988 kobiet z grupy kontrolnej w Chinach

6 citations , October 2014 in “Endokrynologia Polska”

Excessive hair growth is much more common in Chinese women with PCOS than in the general population.

research Hyperandrogenemia

January 2026 in “Elsevier eBooks”

research Coexistence of angiolymphoid hyperplasia with eosinophilia and pulmonary neoplasia

4 citations , January 1987 in “Journal of The American Academy of Dermatology”

A man with both skin lesions and lung cancer improved quickly with chemotherapy, suggesting the skin condition might be a reaction to immune system injury.

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