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Interferon-alpha-2b therapy is an effective, well-tolerated treatment for complicated hemangiomas. Measurement of urinary bFGF levels may provide an objective method for monitoring treatment response.

Background-Hereditary lymphoedemadistichiasis (LD) is an autosomal dominant disorder that classically presents as lymphoedema of the limbs, with variable age of onset, and extra aberrant growth of eyelashes from the Meibomian gland (distichiasis). Other major reported complications include cardiac defects, cleft palate, and extradural cysts. Photophobia, exotropia, ptosis, congenital ectropion, and congenital cataracts are additional eye findings. Recently, we reported that truncating mutations in the forkhead transcription family member FOXC2 resulted in LD in two families. Methods-The clinical findings in seven additional families with LD, including the original family described by Falls and Kertesz, were determined and mutational analyses were performed. Results-Distichiasis was the most common clinical feature followed by age dependent lymphoedema. There is a wide variation of associated secondary features including tetralogy of Fallot and cleft palate. The mutational analyses identified truncating mutations in all of the families studied (two nonsense, one deletion, three insertion, and one insertion-deletion), which most likely result in haploinsuYciency of FOXC2. Conclusions-FOXC2mutations are highly penetrant with variable expressivity which is not explicable by the pattern of mutations. (J Med Genet 2001;38:761-766)

SUMMARY Gestational vitamin A (retinol) deficiency poses a risk for ocular birth defects and blindness. We identified missense mutations in RBP4, encoding serum retinol binding protein (RBP), in three families with eye malformations of differing severity. The mutant phenotypes exhibit dominant inheritance but incomplete penetrance. Maternal inheritance significantly increases the probability of phenotypic expression. RBP normally delivers retinol from hepatic stores to peripheral tissues, including the placenta and fetal eye. The disease mutations greatly reduce retinol binding to RBP yet paradoxically increase RBP affinity for its cell surface receptor, STRA6. By occupying STRA6 nonproductively, the dominant-negative proteins are predicted to disrupt vitamin A delivery from wild-type proteins within the fetus but also, in the case of maternal transmission, at the placenta. These findings establish a previously uncharacterized mode of maternal inheritance, distinct from imprinting and oocyte-derived mRNA, and define a group of hereditary disorders plausibly modulated by dietary vitamin A levels.

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Aims: To describe the aetiology, demography, surgical management, and outcome of a cohort of paediatric ptosis patients in a large tertiary referral oculoplastic centre. Methods: A case note review of all patients undergoing ptosis surgery below the age of 16 years in a tertiary referral oculoplastic unit documenting the laterality, aetiology, severity of ptosis, indications for and type of surgery undertaken, the proportion of good, suboptimal, and poor surgical outcomes, re-operations, and level of patient satisfaction. Results: 340 patients (82% (280/340) unilateral, 18% (60/340) bilateral ptosis) with myogenic (79%, 269/340), aponeurotic (5%, 16/340), neurogenic (11%, 37/340), mechanical (2%, 6/340), apparent (1%, 2/340), and syndrome related (3%, 10/340) ptosis underwent anterior (41%, 141/ 340) and posterior (26%, 90/340) levator resection, frontalis suspension with mersilene (9%, 29/340) and autogenous fascia lata (17%, 59/340), levator transposition (5%, 15/340) and other surgery (1%, 6/340) for visual (43%, 141/333) and cosmetic (57%, 189/333) indications. 77% (260/340) of patients achieved a good outcome, 10% (35/340) a suboptimal outcome, and 13% (45/340) a poor outcome requiring re-operation. There was no statistically significant difference in surgical outcome between patients with mild, moderate, or severe ptosis and with good, moderate, or poor levator function. The level of recorded patient satisfaction with the surgical outcome was 90% (206/229). Conclusions: Results suggest that most groups of paediatric ptosis patients, including those with poor levator function and severe ptosis, achieve satisfactory results with the appropriate ptosis surgery.

Purpose Evaluate the effectiveness of vismodegib in the management of basal cell carcinoma with orbital extension and/or extensive periocular involvement. Methods Retrospective chart review of six consecutive patients with biopsy-proven orbital basal cell carcinoma and two additional patients with extensive periocular basal cell carcinoma who were treated with oral vismodegib (150 mg/day). Results Basal cell carcinoma extended into the orbit in 6 of 8 patients (involving orbital bones in 1 patient), and 2 of 8 patients had extensive periocular involvement (one with basal cell nevus syndrome). Vismodegib therapy was the only treatment in 6 patients, off-label neoadjuvant in 1 patient and adjuvant treatment in 1 patient. Orbital tumors in all 4 patients who received vismodegib as sole treatment showed partial response with a mean 83% shrinkage in tumor size after a median of 7 months of therapy. In the 2 patients receiving vismodegib as neo-adjuvant or adjuvant therapies there was complete response after a median of 7 months of therapy and no evidence of clinical recurrence after discontinuing therapy for a median of 15 months. The 2 patients with extensive periocular involvement experienced complete clinical response after a median 14 months of treatment. During treatment, the most common side effect was muscle spasm (75%) followed by alopecia (50%), dysgeusia (25%), dysosmia, and episodes of diarrhea and constipation (13%). Conclusions Basal cell carcinoma with orbital extension and extensive periocular involvement responds to vismodegib therapy. The long-term prognosis remains unknown, and additional prospective studies are indicated.