Parental experiences with propranolol versus oral corticosteroids for complicated infantile hemangioma, a retrospective questionnaire study.

BACKGROUND: Infantile hemangiomas (IHs) are common and mostly emerge in the head-neck area. Recently, propranolol has been replacing oral corticosteroids (OCS) as the main treatment modality. OBJECTIVES: The aim of this study was to explore the impact of treatment, contentment with treatment outcome and quality of life for families and patients with cervicofacial IHs, treated with propranolol versus OCS. MATERIALS AND METHODS: This study was performed using questionnaires administered by a phone interview. Parents of 16 patients with a cervicofacial IH treated by OCS and 16 patients with an IH of similar localization and overall severity treated with propranolol were interviewed. The questions concerned the impact of treatment at different time periods and the contentment with treatment results. Parents were also asked to give a quality of life (QoL) score (1 to 10) for different time-points. RESULTS: Parents from the OCS group seemed to feel significantly more worried during treatment. Moreover, parents from the propranolol group perceived less negative impact on normal life issues, including work and vaccination of their child. During and after treatment, the parents of propranolol-treated IH patients gave significantly higher QoL scores. CONCLUSION: Propranolol seems to change the impact of IHs, their treatment and the quality of life. Propranolol treatment interferes less with normal issues in daily life, compared to OCS. These findings underline propranolol as the first choice treatment for life- or function-threatening IHs.

Congenital facial linear porokeratosis.

We report a unique case of congenital linear porokeratosis with exclusive facial involvement in a 27-year-old Chinese man. No other family member was affected. To our knowledge, this is the first report in the English literature of congenital linear porokeratosis confined to the face.

Congenital erosive and vesicular dermatosis.

An 8-year-old boy born prematurely at 26 weeks' gestation presented with a reticulate scar on the left cheek. This started as an eroded area on day 3 postpartum, followed by crusting and scarring. There were also linear scars on the left forearm, left lower back and abdomen. The clinical picture fits the entity of congenital erosive and vesicular dermatosis. This retrospective case report delineates the outcome with diagnosis only evident after an 8-year time period.

Olmsted syndrome--a rare syndrome with oral manifestations.

Olmsted syndrome is a rare, congenital condition characterized by severe palmo-planter keratosis, periorificial keratosis, and hypotrichosis. Though orofacial keratosis is one of the consistent findings of Olmsted syndrome, it has never been reported in the dental literature. We report a case of Olmsted syndrome in an eight-year-old boy who presented with massive and crippling palmoplanter keratosis and bilateral oral lesions in the form of keratotic plaques at the corners of the mouth, as well as on the dorsum of the tongue.

[Pre-auricular tumors in an infant. Differential diagnosis of neuroectodermal syndromes]. / Präaurikuläre Tumore bei einem Kleinkind. Differenzialdiagnose neuroektodermaler Syndrome.

BACKGROUND: Neuroectodermal syndromes are complex because of their rarity and overlapping clinical manifestations making differential diagnosis problematic. CASE REPORT: A 2-year old girl presented with a phenotype characterized by bilateral pre-auricular tags, a fistula of the right cheek, hemifacial microsomia, and a limbus dermoid on the right eye. This constellation is characteristic for the Goldenhar syndrome. Following excision of the tags and fistula along with a keratoplasty, the child developed normally. CONCLUSION: The exact diagnosis of a neuroectodermal syndrome facilitates identification of associated symptoms. Early surgical therapy may prevent the development of functional deficits.

Tuberous sclerosis: clinicopathologic features and review of the literature.

INTRODUCTION: Tuberous sclerosis is a hamartoneoplastic syndrome, which may involve multiple organ systems. Oral hard tissue manifestations of the syndrome have been described in the literature only as recently as 1955. Patients who presented with clinical manifestations of tuberous sclerosis did not routinely undergo oral surveys to rule out 'lesions', and consequently data on 'lesions' in the maxillofacial complex is scant. Ten cases have been found in the English language literature, which describe maxillofacial 'lesions', which may be tumours, new growths, neoplasms or overgrowths occurring in patients diagnosed with tuberous sclerosis. PURPOSE: To review the literature for all maxillofacial lesions associated with tuberous sclerosis and to present an eleventh case of a patient with a maxillofacial lesion diagnosed as having tuberous sclerosis. RESULTS: Eleven cases were found with maxillofacial fibroblastic lesions associated with tuberous sclerosis. These lesions were all fibrous benign neoplasms found in the maxillofacial bony complex. CONCLUSIONS: Maxillofacial fibroblastic lesions in tuberous sclerosis have various histopathological presentations, some of which may be difficult to differentiate. Consequently, close microscopic examination of these lesions is necessary so that adequate surgical treatment is provided.

Olmsted syndrome: report of two new cases and literature review.

Olmsted syndrome is a rare keratinization disorder; 18 cases have been published so far. It associates a mutilating cogenital palmoplantar keratoderma with periorificial erythematokeratotic lesions. We report herein two new unrelated male children with Olmsted syndrome (OS), one of whom was studied by light and electron microscopy. Our histological, immunohistochemical, and ultrastructural findings suggest that this disease is related to epidermal hyperproliferation. We present herein a review of the twenty cases published so far and discuss the major clinicopathological and genetic features of this disease.

[Pili multigemini: a pilar dysplasia with linear disposition]. / Pili multigemini: une dysplasie pilaire à disposition linéaire.

BACKGROUND: Pili multigemini is an uncommon pilar dysplasia with linear disposition which could be explained by the pattern of Blaschko's lines. CASE REPORT: A 37-year-old man with no medical history developed pili multigemini over a heavily bearded chin. DISCUSSION: Mili multigemini is an uncommon developmental defect of hair follicles resulting from hairs with multiple matrices and papillae emerging through a single pilosebaceous canal. This defect has a linear distribution on the chin we found to follow Blaschko's lines. Pili multigemini has been observed in association with a few rare malformations. Treatment is difficult.

The clinical spectrum of anti-Ro-positive cutaneous neonatal lupus erythematosus.

BACKGROUND: Cutaneous neonatal lupus erythematosus (NLE) is an uncommon disease described mainly through isolated case reports. OBJECTIVE: Our purpose was to examine the cutaneous spectrum, clinical associations, and course of disease in babies with anti-Ro-positive NLE. METHODS: This is a retrospective case series evaluation of newborns with anti-Ro-positive NLE seen at a single ambulatory care university center over a 20-year period. Cases were drawn from a population of 3.2 million. Follow-up was at least 3 years. RESULTS: Four boys and 14 girls were included in our evaluation. Distribution of skin lesions in 18 babies was as follows: face, 17; periorbital "owl-eye" or "eye mask" facial rash, 14; scalp, 15; arms and legs, 13; trunk and groin, 6. Crusted lesions were predominant in 3. Photosensitivity was seen in 12, and features of cutis marmorata telangiectasia congenita were observed in 4. In 17 neonatal lupus was not suspected until the dermatology consultation. Noncutaneous manifestations included thrombocytopenia in 4, cholestatic hepatitis in 3, and congenital heart block in 3. Four patients had residual telangiectasia that persisted for 3 or more years but eventually cleared in 2 patients. Three babies had dyspigmentation that spontaneously cleared within 22 months. None had atrophy or scarring. CONCLUSION: Periorbital, scalp, and extremity lesions are common in cutaneous NLE. Crusted lesions predominated in male infants. In children selected by cutaneous involvement, thrombocytopenia and hepatic disease were present as frequently as cardiac disease and occurred more frequently in male babies with crusted skin lesions. Children with cutaneous NLE should be evaluated for hematologic and hepatic as well as cardiac involvement.

Congenital plate-like osteoma cutis of the forehead: an atypical presentation form.

Cutaneous ossifications or osteoma cutis can be found in many syndromes. Primary osteoma cutis, present since birth or the first months of life, in the absence of metabolic disorders or trauma, is found in congenital plate-like osteoma cutis and progressive osseous heteroplasia, coexisting in the latter with deep connective tissue ossifications. This report documents the case of a 7-year-old female with a plate-like cutaneous ossification of the forehead causing aesthetic deformities. Other dermal ossifications in the inguinal and preauricular region, as well as the left hand and a small focus in the extraocular muscles of the left orbit, were also present. These lesions did not show progression, and most of them were present since birth. The lesion of forehead was treated surgically. The lack of progression and the fact that the orbital lesion was solitary still fits the criteria for the diagnosis of plate-like osteoma cutis. Plate-like osteoma cutis and progressive osseous heteroplasia may represent varieties of the same disorder.

Lupus erythematosus profundus associated with neonatal lupus erythematosus.

A female infant with neonatal lupus erythematosus had scanty discoid lesions and concurrent lupus erythematosus profundus on the face. Depression of lupus erythematosus profundus lesions was still evident at 4 years of age.

Focal facial dermal dysplasia: report of a case with associated cardiac defects.

Focal facial dermal dysplasia is characterized by congenital scar-like depressions on both temples and a wide spectrum of associated facial abnormalities. We report a 2-month-old white boy who presented with bitemporal defects, laterally deficient eyebrows, absent lower eyelashes, periorbital puffiness, a bulbous nasal tip with prominent sebaceous hyperplasia, and down-turned corners of the mouth. In addition, he had tetralogy of Fallot, an association which previously has not been described.