Orbital Hemangioma with Intracranial Vascular Anomalies and Hemangiomas: A New Presentation of PHACE Syndrome?

We present two cases of infants with a similar constellation of clinical findings: retro-orbital infantile hemangioma (IH), internal carotid artery (ICA) arteriopathy, and intracranial IH. In both cases, intracranial vascular anomalies and hemangiomas were found incidentally during evaluation of unilateral proptosis. Neither infant had evidence of cutaneous segmental IH of the face or neck, which might have provided a clue to the diagnosis of PHACE syndrome or of intracranial hemangiomas. In one case, intracranial involvement was particularly extensive and function threatening, with mass effect on the brain parenchyma. These cases serve to highlight the fact that clinical findings of proptosis, globe deviation, and strabismus should prompt immediate imaging to confirm the presence of orbital IHs and to exclude other diagnoses. Moreover, based on our cases and the embryologic origin of the orbit as a unique developmental unit, patients with confirmed retro-orbital IHs should undergo evaluation for anomalies associated with PHACE syndrome. Patients with orbital IHs and an additional major criterion for PHACE syndrome should be considered to have definite, and not just possible, PHACE syndrome.

Folliculotropic Mycosis Fungoides as a Posttransplant Lymphoproliferative Disorder.

Posttransplant lymphoproliferative disorder (PTLD) is a known complication of solid organ transplantation. The majority are B cell in origin and related to Epstein-Barr virus infection. T-cell PTLD is much less common; most are Epstein-Barr virus negative and have a worse prognosis. Primary cutaneous T-cell lymphoma (CTCL) as a presentation of PTLD is rare. CTCL has a less favorable prognosis in transplant patients compared with that in immune-competent patients. Herein, we report a case of a 13-year-old boy who developed folliculotropic mycosis fungoides, a rare subtype of CTCL, subsequent to renal transplantation. To our knowledge, this is the first report of this type of PTLD in a pediatric patient.

Hemangiomas and the eye.

Infantile hemangiomas are a common vascular birthmark with heterogeneous presentations and unique growth characteristics with early rapid growth and eventual self-involution. Hemangiomas that develop around the eye have the potential for inducing amblyopia by several mechanisms and may eventually result in permanent visual impairment in otherwise healthy infants. Segmental periocular hemangiomas carry the additional risk of associated structural anomalies and PHACE syndrome. In recent years, the treatment of periocular hemangiomas has been revolutionized by the serendipitous discovery of the effectiveness of beta-blockers (systemic and topical), with most experts viewing these as first-line therapies. The management of periocular hemangiomas should involve a close partnership between an ophthalmologist and dermatologist or other relevant specialists familiar with the unique clinical features, differential diagnosis, treatment approaches, and potential complications.

Anti-laminin-332 mucous membrane pemphigoid in a 9-year old girl.

Mucous membrane pemphigoid (MMP), an autoimmune subepithelial blistering disease that predominantly affects the mucous membranes, is usually diagnosed in elderly adults. Early diagnosis of MMP is crucial because it tends to run a chronic and progressive course with the potential for devastating scarring of the mucous membranes that may lead to blindness and airway compromise. A subtype of MMP, anti-laminin-332 MMP, is a rare blistering disorder in which autoantibodies are directed against laminin-332 (formerly epiligrin), a structural protein of the epidermal basement membrane. Herein we report what we believe to be the youngest patient diagnosed with anti-laminin-332 MMP, a 9-year-old girl with disease affecting only the oral, pharyngeal, and laryngeal mucosa, with no skin involvement.