Carola Durán-McKinster

Epidermal Nevus Syndromes: Clinical Findings in 35 Patients

Abstract:u2002 Of the patients with epidermal nevi, 10–18% may have disorders of the eye, nervous, and musculoskeletal systems. A predisposition to malignant neoplasms in ectodermal and mesodermal structures may also be found. There are six different epidermal nevus syndromes described so far: Proteus, congenital hemidysplasia with ichthyosiform nevus and limb defect syndrome, phakomatosis pigmentokeratotica, sebaceous nevus, Becker nevus, and nevus comedonicus. Thirty‐five patients with epidermal nevus syndrome seen at the National Institute of Pediatrics in Mexico City during a 31‐year period are described. This syndrome represented 7.9% of 443 patients with epidermal nevi; its relative frequency was 1 case per 11,928 pediatric patients and 1 case per 1080 dermatologic patients. Nine epidermal nevus syndrome patients (26%) had Proteus syndrome. Sebaceous nevus syndrome was found in six patients (17%), while the nevus comedonicus syndrome was found in three (8%). Two patients were diagnosed with phakomatosis pigmentokeratotica and one patient with congenital hemidysplasia with ichthyosiform nevus and limb defect syndrome. This is the first report of phakomatosis pigmentokeratotica and congenital hemidysplasia with ichthyosiform nevus and limb defect syndrome in Mexican patients. One patient had an inflammatory linear verrucous epidermal nevus with systemic involvement. Thirteen patients (37%) had keratinocytic nevi with systemic involvement. We propose the keratinocytic nevus syndrome to be defined as the association of a keratinocytic nevus with neuronal migration and/or musculoskeletal disorders in addition to a higher risk for mesodermal neoplasms.

Dermatitis Artefacta in Pediatric Patients: Experience at the National Institute of Pediatrics

Abstract:u2002 Dermatitis artefacta is a factitious disorder in which there is deliberate conscious production of skin lesions. There are only a few reports that evaluate instances of dermatitis artefacta in the pediatric population. The aim of this retrospective study was to assess the characteristics of patients with this disorder who were seen at the National Institute of Pediatrics in Mexico City. The records of all patients diagnosed with dermatitis artefacta from January 1980 to December 1999 were analyzed. There were 29 patients (25 females, 4 males). The upper limbs and the face were the most commonly involved areas. Superficial erosions were the most frequent initial event, and residual lesions consisted of scars and crusts. Time taken to diagnosis was on average 10 months. Half of the patients were lost to follow‐up. No correlation was found between the length of time from the disease onset to diagnosis, the type of lesions, and the clinical outcome. Twelve patients had an associated systemic disorder. The possible association with chronic disease has not been sufficiently stressed and demonstrates the importance of providing psychological support for these patients. Psychiatric diagnoses were anxiety, depression, and personality disorder. No correlation was found between the psychiatric diagnosis and the outcome of dermatitis artefacta. A young age at presentation, which has been considered important as a favorable prognostic sign, could not be demonstrated in our patients.

Prevalence and Nature of Nail Alterations in Pediatric Patients

Abstract: The purpose of this investigation was to explore the frequency and nature of ungual alterations in patients of a pediatric dermatology department at a third‐level pediatric hospital. The first 20 patients with nail alterations seen each year during a 5‐year period from 1992 through 1996 were included, totaling 100 patients. The rate of nail alterations was 11% (1/9) in pediatric dermatology patients. There were 5 infants, 19 preschoolers (2‐ to 5‐year‐olds), 38 school children (6‐ to 11‐year‐olds), and 38 adolescents (12‐ to 17‐year‐olds). The most frequent diagnoses were onychomycosis (23), nail alterations in a genodermatosis (23), nail alterations associated with dermatoses (16), onychocryptosis (11), and paronychia (10). Toenails were involved in 54 patients, fingernails in 25, and both in 21 patients. Twenty nails were involved in 21 patients. A high prevalence of nail alterations was found in pediatric dermatology patients, some of which were nonspecific, while others provided important diagnostic clues.

Dermoid cysts: a report of 75 pediatric patients.

Dermoid cysts (DCs) are benign cutaneous tumors that tend to persist and grow. The aim of this study was to examine the clinicopathologic features of congenital DCs. We present a case series of 75 children with a clinicopathologic diagnosis of DC. Seventy‐two cysts were located on the head, one on the neck, and two on the trunk. Six cysts were located along the midline. Eight patients had symptoms other than changes in cyst size. Imaging studies were performed on 15 patients. Surgical excision was the primary treatment in all 75 cases. Neurosurgery and ophthalmology services were involved in the care of some patients. Histopathologic studies reported a foreign body giant cell reaction in 17 of the cysts. No recurrence was documented. DCs can remain stable for years, but they can become symptomatic as a result of enlargement and rupture or, more rarely, as a result of extension into surrounding tissues. Physicians should be aware that certain locations have a higher risk of DC extension, and adequate diagnostic investigations should be performed before their complete resection.

Intravenous Immunoglobulin Therapy for Hypocomplementemic Urticarial Vasculitis Associated with Systemic Lupus Erythematosus in a Child

Abstract:u2003 Hypocomplementemic urticarial vasculitis is a type of urticarial vasculitis with multisystemic involvement and poor prognosis, sometimes associated with systemic lupus erythematosus. Several therapies have been attempted with no consensus on an effective therapeutic regimen. Intravenous immunoglobulin has been used in severe manifestations of systemic lupus erythematosus and recently in hypocomplementemic urticarial vasculitis. We present a 7‐year‐old girl with hypocomplementemic urticarial vasculitis associated with systemic lupus erythematosus and pneumonia who responded favorably to intravenous immunoglobulin.

BENIGN CEPHALIC HISTIOCYTOSIS PRECEDING THE DEVELOPMENT OF INSULIN‐DEPENDENT DIABETES MELLITUS

1. Gorlin RJ. Nevoid basal cell carcinoma syndrome. Dermatol Clin 1995;13:113–125. 2. Kimonis VE, Goldstein AM, Pastakia B et al. Clinical features in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 1997;69:299–308. 3. Bale AE, Yu K. The hedgehog pathway and basal cell carcinomas. Hum Mol Gen 2001;10:757–762. 4. Gutierrez MM, Mora RG. Nevoid basal cell carcinoma syndrome. A review and case report of a patient with unilateral basal cell nevus syndrome. J Am Acad Dermatol 1986;15:1023–1030. 5. Totten JR. Multiple basal cell naevi syndrome: management of the young patient. Br J Oral Surg 1979;17:147–156. 6. Beddis IR, Mott MG, Bullimore J. Case report: nasopharyngeal rhabdomyoscarcoma and Gorlin’s naevoid basal cell carcinoma syndrome. Med Pediatr Oncol 1983;11:178–179. 7. Johnson AD, Hebert AA, Esterly NB. Nevoid basal cell carcinoma syndrome: bilateral ovarian fibromas in a 3 1 / 2 year-old girl. J Am Acad Dermatol 1986;4:107–116. 8. Zvulunov A, Strother D, Zirbel G et al. Nevoid basal cell carcinoma syndrome. Report of a case with associated Hodgkin’s disease. J Pediatr Hematol Oncol 1995;17:66– 70. 9. Korczak JF, Brahim JS, DiGiovanna JJ et al. Nevoid basal cell carcinoma syndrome with medulloblastoma in an AfricanAmerican boy: rare case illustrating gene–environment interaction. Am J Med Genet 1997;69:309–314. 10. Hall J, Johnston KA, McPhillips JP et al. Nevoid basal cell carcinoma syndrome in a black child. J Am Acad Dermatol 1998;38:363–365. 11. Meara JG, Li KK, Shah SS, Cunningham MJ. Odontogenic keratocysts in the pediatric population. Arch Otolaryngol Head Neck Surg 1996;122:725–728. 12. Ahn SG, Lim YS, Kim DK et al. Nevoid basal cell carcinoma syndrome: a retrospective analysis of 33 affected Korean individuals. Int J Oral Maxillofac Surg 2004;33:458–462. 13. Lo ML, Nocini P, Bucci P et al. Early diagnosis of nevoid basal cell carcinoma syndrome. J Am Dent Assoc 1999;130:669–674. 14. Su CW, Lin KL, Hou JW et al. Spontaneous recovery from a medulloblastoma by a female with Gorlin–Goltz syndrome. Pediatr Neurol 2003;28:231–234. 15. Walter AW, Pivnick EK, Bale AE et al. Complications of the nevoid basal cell carcinoma syndrome: a case report. J Pediatr Hematol Oncol 1997;19:258–262. 16. Golitz LE, Norris DA, Luekens CA et al. Nevoid basal cell carcinoma syndrome. Multiple basal cell carcinomas of the palms after radiation therapy. Arch Dermatol 1980;116:1159– 1163. 17. Savrou T, Bromley CM, Nicholson HS et al. Prognostic factors and secondary malignancies in childhood medulloblastomas. J Pediatr Hematol Oncol 2001;23:431–436. 18. Kopera D, Cerroni L, Fink-Puches R et al. Different treatment modalities for the treatment of a patient with the nevoid basal cell carcinoma syndrome. J Am Acad Dermatol 1996;34:937–939. 19. Krunic AL, Viehman GE, Madai S et al. Microscopically controlled surgical excision combined with ultrapulse CO2 vaporization in the management of a patient with the nevoid basal cell carcinoma syndrome. J Dermatol 1998;25:10–12. 20. Nouri K, Chang A, Trent JT et al. Ultrapulse CO 2 used for the successful treatment of basal cell carcinomas found in patients with basal cell nevus syndrome. Dermatol Surg 2002;28:287–290. 21. Doctoroff A, Oberlender SA, Purcell SM. Full-face carbon dioxide laser resurfacing in the management of a patient with the nevoid basal cell carcinoma syndrome. Dermatol Surg 2003;29:1236–1240. 22. Rogerson KC. Gorlin’s syndrome: an update on diagnosis and management. Oral Maxillofac Surg Clin North Am 1991;32:138–144.

Bart Syndrome: The Congenital Localized Absence of Skin May Follow the Lines of Blaschko. Report of Six Cases

Abstract: Three cutaneous manifestations are characteristic of Bart syndrome: congenital localized absence of skin (CLAS), mucocutaneous blistering, and nail abnormalities. Six cases of Bart syndrome are herein reported. Localized absence of skin is present at birth, particularly on the anterior aspects of the lower extremities and dorsa of the feet. Physical trauma in utero has been proposed as a mechanism to explain the denuded areas on the limbs. The recurrent, highly similar pattern of the congenital defect in regard to location and clinical appearance in our patients and in most of the reported cases strongly suggests that trauma is too simplistic an explanation. Because of the observed bilateral and symmetric distribution of denuded areas in an S‐shaped broad band, their sharply demarcated borders, the involvement of the toe webs, and the frequent similar involvement of the soles, we suggest that congenital localized absence of skin in Bart syndrome may follow the lines of Blaschko.

Proteus Syndrome: New Findings in Seven Patients

Abstract: Seven children with Proteus syndrome (PS) are reported. The majority of clinical findings coincide with what is reported in the literature. New findings were blue sclerae, telecanthus, epiblepharon, endotropy, hemimegaly of the optic nerve, occipital dysmyelination and compression of the corpus callosum, craneosynostosis, decalcification and thinning of the cortical layer of long bones, and talipes equinus. The clinical findings, possible etiology, differential diagnosis, and treatment of PS are discussed.

Less common clinical manifestations of atopic dermatitis: prevalence by age.

Abstract:u2002 The common manifestations of atopic dermatitis (AD) appear sequentially with involvement of the cheeks in infancy, flexural extremities in childhood, and hands in adulthood. Although less common clinical manifestations are well described, they have not been the subject of epidemiologic studies to describe their prevalence in specific age groups. This observational, cross‐sectional, comparative study included 131 children younger than 18 of both sexes with AD who attended the clinics of the Dermatology Department of the National Institute of Pediatrics in Mexico City. Patients were examined to determine the presence of infrequent clinical manifestations of AD during infancy, preschool and school age, and adolescence and stratified according to sex, age, and number of clinical signs. A chi‐square test was used to detect differences according to age and sex. Logistic regression analysis was also performed. The main findings according to age were genital dermatitis and papular‐lichenoid dermatitis variant in infants; atopic feet, prurigo‐like, nummular pattern, and erythroderma in preschool and school‐aged children; and eyelid eczema and nipple dermatitis in adolescents. The risk of development of nipple dermatitis and eyelid eczema increased with age, and the development of genital dermatitis decreased with age. The knowledge of the prevalence of less common clinical manifestations of AD according to age in different populations might be helpful in diagnosing incipient cases of AD.

Streptococcal exanthem in a blaschkolinear pattern: Clinical evidence for genetic mosaicism in hypomelanosis of ito

Abstract: Due to the presence of two different clones of cells in early embryogenesis, numerous congenital and acquired dermatoses have a linear distribution following the lines of Blaschko. Acquired inflammatory skin diseases are rarely observed in linear patterns. Our patient was born with macrocephaly, left eye glaucoma, and a left facial and contralateral corporal hemihypertrophy, cerebral dysgenesis, and skeletal abnormalities. Hypopigmented S‐shaped linear macules on the trunk and linear streaks on the arms and legs were compatible with hypomelanosis of Ito. At 5 years of age the patient presented with an erythematous follicular exanthem compatible with scarlet fever exclusively in the lines of Blaschko. This fact suggests a genetic mosaicism.