Angela Hernández-Martín

Propranolol for Infantile Hemangiomas

Abstract:u2002 Propranolol has been used successfully in a limited number of children with infantile hemangiomas. This multicenter retrospective study describes the efficacy and adverse effects of propranolol in infantile hemangioma. Seventy‐one infants with infantile hemangiomas were treated with oral propranolol, 1u2003mg/kg/12u2003hours, for at least 12u2003weeks. A photograph based severity scoring assessment was performed by five observers to evaluate efficacy, utilizing a scoring system of 10 as the original infantile hemangioma before treatment and 0 as completely normal skin. The mean of the five independent measurements was used in the analysis. Propranolol was a rapid and effective treatment for infantile hemangiomas at 4u2003weeks (pu2003<u20030.001), at 8u2003weeks (pu2003<u20030.001 compared to the 4u2003wks value), at 12u2003weeks (pu2003<u20030.05 compared to the 8u2003wks value), and thereafter up to 32u2003weeks (pu2003<u20030.01 compared to the 16u2003wks value). The response of infantile hemangiomas to propranolol was similar regardless of sex, age at onset of treatment, type of involvement (segmental and nonsegmental), facial segments affected, special locations (eyelid, nasal tip, and parotid region), ulceration, and depth of infantile hemangiomas. Very few side effects were reported; mainly agitated sleep in 10 of 71 patients. In the series of patients in this study, oral propranolol 2u2003mg/kg/day was a well‐tolerated and effective treatment for infantile hemangiomas. Prospective studies are needed to establish the exact role of propranolol in the treatment of infantile hemangiomas.

Recurrence of infantile hemangiomas treated with propranolol.

Abstract:u2003 Propranolol has shown to be effective in the treatment of infantile hemangiomas (IH), but several cases of recurrences have been reported so far. We describe five cases of IH recurrence after propranolol treatment was stopped in 26 patients treated with propranolol all of whom were observed for at least 9 months after treatment was discontinued. Recurrence was present in 5 of 26 cases, yielding a recurrence rate of 19%. All cases were in females. Time from withdrawal to recurrence ranged from 0 to 6u2003months. In four of five cases, the lesion relapsed after the age of 11u2003months. Four of the five cases presented partial recurrences, whereas in one case, recurrence was complete. In the majority of cases, recurrence appeared in the deep component of the IH. Early treatment withdrawal or a long proliferative phase of IH are potential causes of hemangioma recurrence, although the exact mechanism remains unclear. The vascular endothelial growth factor receptor might be involved, as well as incomplete apoptosis during treatment.

Aplasia cutis congenita and other anomalies associated with methimazole exposure during pregnancy.

Abstract:u2002 Aplasia cutis congenita (ACC) is a congenital defect consisting of a circumscribed absence of skin that usually involves the scalp. The etiology is uncertain, and several teratogenic agents such as methimazole have been involved. We report two cases of ACC and other anomalies in newborns exposed to methimazole during pregnancy.

Postvaccination Bullous Pemphigoid in Infancy: Report of Three New Cases and Literature Review

Bullous pemphigoid (BP) is an acquired autoimmune blistering disorder of unknown etiology uncommon in childhood. Unlike adult BP, infantile BP shows acral distribution and resolves rapidly with systemic steroids. We report three infants with infantile BP presenting shortly after vaccination for diphtheria, pertussis, tetanus, poliomyelitis, hepatitis B, Haemophilus influenzae B, and meningococcus C. Our cases further reinforce the causal association between childhood BP and vaccination.

Malignant atrophic papulosis: a case report with severe visual and neurological impairment.

Abstract:u2002 Malignant atrophic papulosis, or Degos’ disease, is a severe systemic vasculopathy extremely rare in children. The skin, gastrointestinal tract, and central nervous system are most frequently affected. We report a 5‐year‐old girl with malignant atrophic papulosis who presented with widespread skin lesions from early infancy and severe visual and neurological impairment.

Segmental prurigo pigmentosa.

Prurigo pigmentosa (PP) is an inflammatory skin disease of unknown origin. The skin lesions in PP are symmetrically distributed on the back, chest, and neck. Pruritus is a prominent feature in many cases. We report on a 13‐year‐old girl with lesions typical of PP in a segmental arrangement on her left chest. A segmental distribution of PP has not been previously reported.

Papular Epidermal Nevus with “Skyline” Basal Cell Layer (PENS) with Extracutaneous Findings

Abstract:u2002 Papular epidermal nevus with “skyline” basal cell layer (PENS), a variant of epidermal nevus, was recently described in otherwise normal children. We describe herein a patient with multiple, typical PENS lesions associated with peculiar facies, bilateral Achilles tendon shortening, and mild psychomotor delay. The association of PENS with extracutaneous manifestations suggests the possibility of a new type of epidermal nevus syndrome, for which we propose the term PENS syndrome.

Extensive Comedonal and Cystic Acne in Patau Syndrome

Abstract:u2002 Patau syndrome is a chromosomal disorder associated with multiple malformations caused by inheritence of an extra chromosome (trisomy 13). Some skin defects have been reported in patients with Patau syndrome, such as scalp defects, glabellar stains, deep palmar creases, rocker‐bottom feet, convex soles, hyperconvextity of the nails, and multiple hemangiomas. To our knowledge, widespread comedonal and cystic acne have not been previously reported in Patau syndrome.

Nevus Anemicus: A Distinctive Cutaneous Finding in Neurofibromatosis Type 1

Nevus anemicus (NA) is a cutaneous anomaly characterized by pale, well‐defined patches with limited vascularization after rubbing. They are largely known to be associated with neurofibromatosis 1 (NF1) and have received little attention in the literature until recently. We sought to characterize the prevalence and clinical features of patients with NA and NF1. We conducted an observational prospective study of 99 children with NF1 at the Hospital Niño Jesús, Madrid, Spain, from January 1, 2012, through July 31, 2013, and reviewed three other series of patients with NF1 and NA recently reported. The prevalence of NA in children with NF1 ranged from 8.8% to 51%, being much more prevalent at younger ages. Prospective studies yielded a higher prevalence than retrospective studies. NA was located most commonly on the trunk, particularly on the anterior chest wall, and was often multiple. Patients with segmental NF1 or isolated café au lait spots rarely had NA, and NA was absent in other genodermatoses. The collection of data was not homogeneous in all studies. NA has a high prevalence in individuals with NF1 patients but seems to be absent in connection with other genodermatoses, therefore its presence can assist in the diagnosis of suspected cases of NF1. The subtle clinical appearance of NA makes its detection difficult, and physicians involved in the care of children with NF1 must be aware of its possible presence and significance.

Invasive Lymphatic Malformation (Gorham-Stout) of the Pelvis with Prominent Skin Involvement

Abstract:u2002 Gorham‐Stout syndrome is a rare disease characterized by progressive osteolysis leading to disappearance of the bone. Vascular proliferations have been implicated in the pathogenesis of this syndrome. The case of a 7‐year‐old girl with a prominent invasive lymphatic malformation on the lumbosacral area and massive osteolysis of the pelvic girdle is reported.