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Juvenile hyaline fibromatosis and infantile systemic hyalinosis: The first two reported cases in the Philippines

Authors: Mariecon O. Escuadro-Chin, MD, DPDS; Patricia Anne Z. Pontejos, MD, DPDS and Marie Eleanore O. Nicolas, MD, FPDS


Hyaline Fibromatosis Syndrome (HFS) is a rare, autosomal recessive condition characterized by abnormal deposition of amorphous hyaline material in the skin, joints and visceral organs. It represents a disease spectrum with infantile systemic hyalinosis (ISH) being the severe form with deaths in the first 2 years of life and juvenile hyaline fibromatosis (JHF) being the mild form with survival to adulthood. In both disorders, mental development is normal.
The first case is a 1-year-old male with a coarse facial appearance and gingival hypertrophy, multiple painful joint contractures, frog leg deformity, and characteristic cutaneous findings of multiple erythematous plaques with cobblestone appearance on the neck, back, perianal area and hyperpigmented patches overlying malleoli and metacarpophalangeal joints. He also had recurrent upper respiratory tract infections and intractable diarrhea. The second case is a 4-year-old girl who had a coarse facial appearance, wide-based gait and multiple joint contractures. She had multiple papules and plaques on the head and neck, multiple hard masses of the scalp and digits, gingival hyperplasia and sessile perianal masses. Diagnosis of ISH and JHF, respectively were confirmed by histopathology and skeletal survey.
HFS is a rare genetic disorder and only a few are reported in literature. Our paper highlights the importance of early recognition by presenting the characteristic clinical manifestations and diagnostic work-ups; genetic counselling of both the patients and their families; and the long-term, multidisciplinary approach in the management of such conditions. To the best of our knowledge, these are the first reported cases in the Philippines.



Escuadro-Chin, M, Pontejos, PA & Nicolas, ME. (2017). Juvenile hyaline fibromatosis and infantile systemic hyalinosis: The first two reported cases in the Philippines. Journal of the Philippine Dermatological Society, 26(1), 51-57.



yaline fibromatosis syndrome, juvenile hyaline fibromatosis, infantile systemic hyalinosis

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Juvenile hyaline fibromatosis and infantile systemic hyalinosis: The first two reported cases in the Philippines