Le Piebaldisme est une maladie autosomique dominante rare caractérisée par une anomalie congénitale de la pigmentation de la peau devenant parsemé de zones hypopigmentaires. Il est dû à une anomalie de développement des mélanocytes. Il atteint généralement la peau en exclusivité, par ailleurs il peut être associé à d'autres anomalies ou être confondu avec d'autres diagnostics différentiels. Nous présentons le cas d'un garçon de 5ans atteint de piebaldisme dans le cadre d'un phénotype dermatologique familial sans autres atteintes. Nous discuterons à travers ce cas la pathogénie, la clinique, les diagnostics différentiels ainsi que les modalités de prise en charge et les nouveaux essais thérapeutiques.
Van Wyk-Grumbach syndrome (VWGS) is characterized by juvenile hypothyroidism, delayed bone age, isosexual precocious puberty and massive ovarian cysts. We report such a case in a 7-yearold girl who presented with a bilateral pelvic pain, abdominal distension and signs of hypothyroidism. Physical examination showed a breast development and lack of pubic and axillary hair. There was no clitoromegaly. Pelvic ultrasonography and CT scan showed enlarged bilateral multiloculared multicystics ovarian masses. The pituitary MRI was recommended before an elevated prolactin, revealed a large sellar and suprasellar mass. The patient was started on thyroid replacement using L-Thyroxine. Clinically, the patient's fatigue, pelvic pain, and abdominal distension are resolved. During the follow-up, her thyroid functions and serum prolactin normalized within 8 months. Ultrasonography revealed regression of ovarian cysts in 2 months measuring, with normal sized ovaries in 14 months.
Cutaneous hemangiomas are benign vascular tumors, they can be complicated by very hemorrhagic ulcers and rarely by infections. Oral treatment with beta-blockers has revolutionized the management of complicated cutaneous hemangiomas. We report a case of a 4-month-old infant with no notable history, who consulted for purulent ulceration of a cutaneous hemangioma in the upper of thorax with fever from 3 days ago. The clinical examination finds a febrile infant at 39°C, the hemangioma of 10 cm large presents a central necrosis (A). The indication of hospitalization for management was indicated, but refused by the parents. The biological assessment revealed a CRP at 124mg/l with hyperleukocytosis at 15700/mm 3 predominantly PNN. We started the outpatient treatment: daily local care of the infected ulceration, oral antibiotic therapy: Amoxicillin + clavulanic acid for 10 days and analgesics (Paracetamol). Faced with the hemorrhagic appearance of the ulceration measuring 3cm large diameter (B), we started the beta-blockers, outpatient, orally, after performing a normal ECG. (1mg/kg/day then 2mg/kg/day in two doses after the 1 st week then 3mg/kg/day the third week). Twice-daily monitoring of capillary blood glucose, blood pressure and heart rate was performed at each dose increase. Clinical improvement was spectacular with significant involution of hemangioma (C) after 2 months of treatment with Propranolol. This observation recalls the importance of the introduction of beta-blockers in front of complicated hemangiomas as well as the possibility of their management on an outpatient basis.
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