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Background Tuberous sclerosis has been associated with lower extremity lymphoedema in rare cases, only in females. Our objective was to increase present knowledge about this condition by describing this association of lower limb lymphoedema and tuberous sclerosis, however, in a male patient. Methods We report the case of a 5-year-old boy who presented with left lower limb congenital lymphoedema and was diagnosed with tuberous sclerosis 9 days after birth based on adequate clinical criteria. This patient's lymphoedema was severe and caused compartment syndrome requiring fasciotomies at 2 days after birth, numerous surgical interventions for chronic wounds and eventually necessitating several toe amputations. A biopsy confirmed benign vascular lymphatic malformation and genetic analysis confirmed the TSC2 mutation. A thorough literature review using the Medline database from 1948 to August 2013 was conducted to investigate the possible association between lower extremity lymphoedema and tuberous sclerosis. Results Our literature review confirms that the 5 reported cases of the association between lower extremity lymphoedema and tuberous sclerosis were all in female patients. Our case is the first, to our knowledge, to identify that the cause of lymphoedema is biopsy-proven benign vascular lymphatic malformation and to confirm that this association may occur in male patients as well. Conclusions Although the true incidence is unknown, there exists a rare association between tuberous sclerosis and lower extremity lymphoedema, both in female and male patients, which may be severe and lead to compartment syndrome as well as other complications throughout development, including chronic wounds, eventually requiring amputations. A multidisciplinary team approach should be strongly considered. Level of evidence Level V (case report).

Objective: Also named Caffey disease, infantile cortical hyperostosis is a rare disease that usually affects children of a few weeks of age. The clinical picture is that of irritability, soft tissue swelling at various sites (mandible, clavicle, limbs) with local warmth, and pain on palpation. Radiographs demonstrate an important cortical thickening of the affected bony structures. There is generally spontaneous resolution of the inflammatory signs within the first few months or years of life, without future recurrence. We report the case of a recurrence in the adolescent period and conducted a thorough review of the literature to confirm this rare possibility. Methods: We report the case of a 12-year-old female patient, presenting symptoms of pain and swelling of both forearms and legs, similar to her initial clinical picture at 1 month of age when the diagnosis of Caffey disease was made. Genetic analysis confirmed the COL1A1 mutation, the classic mutation described in the familial form of this disease. Radiologic investigation revealed new periosteal bone formation of the right and left ulnae and the left fibula, suggesting a recurrence of cortical hyperostosis. A thorough review of the literature was conducted, using the Medline database between 1948 and 2011, to confirm this hypothesis. Results: The literature confirms the possibility but also the rarity of a recurrence of cortical hyperostosis in an adolescent who was diagnosed with Caffey disease in infancy. We have identified less than a dozen cases in the literature describing such a recurrence and in the majority there are no medical photographs or radiographs to support the clinical diagnosis. Our case is well documented both clinically and radiologically regarding the initial presentation and the recurrence in adolescence. Conclusions: Although very rare and poorly recognized, the diagnosis of recurrent cortical hyperostosis must be evoked in a patient who suffered from Caffey disease in infancy, and presents similar clinical characteristics in the adolescent period. Level of Evidence: Level V—case report.