Roger L. Ladda, Author at Rheumatology Advisor
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Roger L. Ladda

All articles by Roger L. Ladda

Dermatology

DiGeorge Syndrome (deletion 22q11.2; Velo-Cardio-Facial Syndrome; thymic hypoplasia; CATCH 22)

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Are You Confident of the Diagnosis? Characteristic findings on physical examination Deletion 22q11.2 is associated with a wide range of clinical findings. Congenital heart disease occurs in 76% of patients and primarily involves conotruncal malformations, such as tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus. Characteristic facial features include angular facies; small, posteriorly rotated…

Dermatology

Argininosuccinic Aciduria

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Are You Confident of the Diagnosis? What you should be alert for in the history Characteristic findings on physical examination Argininosuccinic aciduria is a disorder of the urea acid cycle. Although patients may present at any age, the onset is more typical in the neonatal period or late infancy. The neonatal presentation is usually characterized…

Dermatology

Multiple Carboxylase Deficiency (Biotinidase deficiency)

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Are You Confident of the Diagnosis? Multiple carboxylase deficiency is a rare inborn error of biotin metabolism caused by defects in biotinidase or holocarboxylase synthetase in the biotin cycle. Biotin serves as a cofactor for four carboxylases: 3-methylcrotonyl carboxylase, propionyl-CoA carboxylase, acetyl-CoA carboxylase and pyruvate carboxylase. Holocarboxylase synthetase catalyzyes the covalent addition of biotin to…

Dermatology

Klinefelter Syndrome (XXY male)

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Are You Confident of the Diagnosis? What you should be alert for in the history Klinefelter syndrome designates a condition in which a male has an extra X chromosome and has a cluster of typical physical features. These features would include first and foremost small firm testes (low testicular volume), tall slender body habitus, and…

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