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Last update 23 Jan 2025

Progeria Short Stature Pigmented Nevi

Last update 23 Jan 2025

Basic Info

Synonyms

Baraitser syndrome, MULVIHILL-SMITH SYNDROME, Mulvihill-Smith Syndrome

+ [11]

Introduction

Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.

Drugs associated with Progeria Short Stature Pigmented Nevi

Lonafarnib

Target

Ftase

Mechanism

Ftase inhibitors

Active Org.

Eiger BioPharmaceuticals, Inc. [+8]

Originator Org.

Merck Sharp & Dohme Corp.

Active Indication

Laminopathies [+5]

Inactive Indication

Advanced breast cancer [+11]

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

United States

First Approval Date20 Nov 2020

100 Clinical Results associated with Progeria Short Stature Pigmented Nevi

100 Translational Medicine associated with Progeria Short Stature Pigmented Nevi

0 Patents (Medical) associated with Progeria Short Stature Pigmented Nevi

Literatures (Medical) associated with Progeria Short Stature Pigmented Nevi

01 May 2024·AACE Clinical Case Reports

Severe Hyponatremia Triggered by Immune Checkpoint Inhibitor Therapy in a Patient With Mulvihill-Smith Syndrome

Author: Mathias, Priyanka ; Tavdy, Tammy ; Samavedam, Janaki Manasa ; Lee, Hanna J.

Background/ObjectiveImmune checkpoint inhibitors (ICI), including Programmed Cell Death 1, Programmed Cell Death Ligand 1, and Cytotoxic T-lymphocyte Associated Antigen 4 inhibitors, upregulate T-cell responses against tumor cells and are becoming a cornerstone in the treatment of various advanced solid and hematological cancers. Mulvihill-Smith Syndrome (MSS) is a rare genetic syndrome that has been associated with metabolic abnormalities and early-onset tumors, including malignancies. We report the first known case of ICI-induced hyponatremia attributable to syndrome of inappropriate antidiuretic hormone ADH release (SIADH) in a patient with MSS.Case ReportA 23-year-old female patient with MSS and hepatocellular carcinoma presented with recurrent hyponatremia. Assessment of fluid status and electrolytes revealed a euvolemic, hypotonic process consistent with SIADH shortly after initiating adjuvant therapy with atezolizumab, a Programmed Cell Death Ligand 1 inhibitor.DiscussionEndocrine etiologies for euvolemic hypotonic hyponatremia, including adrenal insufficiency and hypothyroidism, were excluded. The diagnosis of SIADH was confirmed based on electrolyte and osmolality studies. Sodium levels normalized with fluid restriction. Given the onset of hyponatremia 30 days after atezolizumab initiation, we posit that atezolizumab triggered severe hyponatremia due to SIADH.ConclusionWith the expanding utilization of ICIs, including in patients predisposed to malignancies such as MSS, vigilant monitoring for ICI-mediated electrolyte imbalances is crucial. Monitoring for hyponatremia and SIADH in the setting of ICI therapy is recommended.

01 Nov 2020·European Journal of Medical GeneticsQ4 · MEDICINE

Pathophysiology of premature aging characteristics in Mendelian progeroid disorders

Q4 · MEDICINE

Review

Author: Hennekam, Raoul C M

Aging is a physiological process that is in part genetically determined. Some of the signs and symptoms of aging also occur prematurely in Mendelian disorders. Such disorders are excellent sources of information of underlying mechanisms for these components of aging, and studying these may allow detection of pathways that have not yet considered in detail in physiological aging. Here I define the clinical characteristics that constitute aging and propose that at least 40% of aging signs and symptoms should be present before an entity should be tagged as progeroid. A literature search using these characteristics yields 17 entities that fulfill this definition: Hutchinson-Gilford progeria, mandibulo-acral dysplasia, Nestor-Guillermo progeria, Werner syndrome, Cockayne syndrome, cutis laxa progeroid, Penttinen progeroid syndrome, Mandibular underdevelopment, Deafness, Progeroid features, Lipodystrophy, Fontaine progeroid syndrome, SHORT syndrome, Wiedemann-Rautenstrauch syndrome, Mulvihill-Smith syndrome, dyskeratosis congenita, Marfan syndrome lipodystrophy type, Warburg-Cinotti syndrome, Lessel syndrome and Bloom syndrome. The presenting and main characteristics of these entities are indicated briefly. Their pathophysiology is not complete pathophysiology is reviewed but only the pathophysiology of the premature aging characteristics of this series of entities is compared to the known mechanisms ("Hallmarks") of physiological aging as summarized in the review paper by Lopez-Otin and colleagues. Although many causative genes have not been studied fully for all known aging mechanisms the comparison demonstrates that additional mechanisms must play a role to explain the aging characteristic in some of the progeroid entities of the progeroid entities, and possibly also in physiological aging.

01 May 2018·MedicineQ4 · MEDICINE

A literature review on this rare progeroid pathology

Q4 · MEDICINE

ReviewOA

Author: Roberta Condo ; Pier Carmine Passarelli ; Loredana Cerroni ; Antonio D'Addona ; Paolo Francesco Manicone ; Guido Pasquantonio ; Manuele Mancini

BACKGROUNDMulvihill-Smith syndrome is a rare sporadic condition that was first recognized in 1975. A total of 11 cases have been described in the literature. The aim of this study was to describe the orofacial signs and dental anomalies, their frequency, and the relationship between Mulvihill-Smith syndrome and other progeroid syndromes via a review of the literature.METHODSA systematic PubMed search was performed to retrieve articles published between 1975 and the present day that described patients affected by Mulvihill-Smith syndrome. The search identified 14 articles, and data on 11 patients were extracted from the selected articles.RESULTSA total of 7 patients (63.6%) affected by Mulvihill-Smith syndrome were described as having a typical "bird" face. Dental abnormalities, including irregular shape, enamel defects, hypodontia, and taurodontism, were described in 6 patients (54.5%). All patients (100%) had multiple pigmented nevi on the face and a lack or thinning of subcutaneous tissue around the neck and face. Three patients with Mulvihill-Smith syndrome exhibited early onset of tumors of the gastrointestinal tract, including the tongue.CONCLUSIONMulvihill-Smith syndrome is a clinically complex disease that may be caused by a single gene mutation. Numerous different tissues of the body are affected. This analysis of the orofacial signs may help clinicians to diagnose this rare pathology.

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Progeria Short Stature Pigmented Nevi

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