Ahmad Behvad, Parvaneh Vessal, Abdolrahim Naseri, Abolfrazl Soltan Abadi,
Volume 14, Issue 1 (March 1990)
Abstract
Vitamin D resistant rickets with alopecia is a rather rare heritable disease probably caused by a different variety of metabolic disorder of this vitamin. Disturbances of protoplasmic and unclear receptors for vitamin D metabolites in bones and intestinal cells have been proposed as basic mechanism; Alopecia is attributed to hypersensitivity to vitamin D; very much like what usually appears in vitamin D intoxication. We had a similar case in a 16 month old boy admitted to pediatric Department Loghman-e- Hospital. Clinical feature of rickets started at one year of age and alopecia at birth. Vitamin therapy in high doses did not improve the rickets nor alopecia during hospitalization.
Ahmad Behvad, Mohammad Rakhshan , Parvaneh Vesal, Abolfazl Soltan Abadi,
Volume 15, Issue 1 (September 1991)
Abstract
Lipogranulomatosis or Farber's disease in a rare autosomal recessive disorder characterized by swollen, tender joints, periarticular and subcutaneous nodules, horsncss and progressive aphonia. Hepatosplcnomcgaly and C.N.S. involvements arc also reported in certain patients.
The disorder is caused by a deficiency of acid ceramidase which may be best diagnosed by missing ceramidasc activity at acidic pH in extracts of cultured skin fibroblasts.
We presented here for the first time 2 cases of lipogranulomatosis in a 1 year-old boy and a 3 year-old girl admitted to children department Ioghman Hakim Medical center for evaluation of arthritis, periartcular nodules and other associated manifestion, skin man manifestations which were found out to be Jcukocytoclastic vasculitis on biopsy examinations in addition to limbs edema and spindle, shaped arthropaties in the first patient and pronounced horsncss and remarkable pcriartecular nodulcs,joint swlling, limited motion and not responding to conventional treatment in the second patient were of noticeable clinical findings.
Synovial biopsy on the first case and subcutaneous nodular biopsy on the second one revealed sufficient macrophages filled with lipids whech were consistant with lipogranulomatosis.
