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Seip-lawrence Syndrome (Three Cases in a Family).

B S N Reddy, A K Ram, M C Baruah

    Indian Journal of Dermatology, Venereology and Leprology
    |February 3, 2017
    PubMed
    Summary

    This report details a rare Seip-Lawrence syndrome case in three siblings from consanguineous parents, highlighting varied clinical presentations from cutaneous changes to severe systemic involvement.

    Area of Science:

    • Genetics and rare diseases
    • Pediatric endocrinology
    • Dermatology

    Background:

    • Seip-Lawrence syndrome (SLS) is a rare genetic disorder characterized by lipodystrophy.
    • Consanguinity in parents increases the risk of autosomal recessive genetic disorders.

    Observation:

    • Three siblings (two male, one female) from consanguineous parents presented with SLS.
    • Clinical manifestations varied, including low intelligence, distinct facial features, abdominal protrusion, and skin changes (hypermelanosis, hypertrichosis, lipoatrophy, acanthosis nigricans).

    Findings:

    • The first child exhibited short stature, clitoral hypertrophy, hepatomegaly, left ventricular hypertrophy, hyperglycemia, and glycosuria.
    • The second child presented with penile enlargement, left ventricular hypertrophy, hepatosplenomegaly, and abnormal glucose tolerance test (GTT).

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  • The youngest child showed only cutaneous findings without visceral or biochemical abnormalities.

    • Implications:

    • This case highlights the phenotypic variability of Seip-Lawrence syndrome within a single family.
    • Understanding the spectrum of SLS is crucial for accurate diagnosis and management of affected individuals.
    • Further research into the genetic basis and molecular mechanisms of SLS can inform potential therapeutic strategies.