Cutis marmorata telangiectatica congenita and hypospadias: report of 4 cases.

Cutis marmorata telangiectatica congenita (CMTC) is an uncommon sporadic congenital vascular anomaly. Of the 111 patients with CMTC examined in our clinic during the past 25 years, 4 were found to have hypospadias. All cases were sporadic. Although CMTC has been associated with various abnormalities, to our knowledge there are no reports in the literature of concurrent hypospadias.

Idiopathic palmoplantar eccrine hidradenitis in children.

Idiopathic palmoplantar eccrine hidradenitis (IPPH) is a recently described disorder characterized by painful erythematous plantar nodules and in three cases, showed a typical neutrophilic infiltrate around and within the eccrine sweat apparatus. Five cases of IPPH on the soles of the feet in healthy children are reported. The disorder presented after intense physical activity in four cases. The course was benign and self-limiting. Complete bed rest for several days without any medical therapy led to alleviation of the pain and disappearance of all the lesions. Conclusion. Idiopathic palmoplantar eccrine hidradenitis may be more common than reported. Paediatricians should be aware of it in order to avoid unnecessary diagnostic tests and treatments.

Sacral nevus flammeus simplex: the role of imaging.

Neonates with midline lumbar, thoracic, or occipital cutaneous lesions should be suspected of having spinal dysraphism and should undergo an imaging study. The aim of the present study was to evaluate whether sacral nevus flammeus simplex (SNFS) in neonates is associated with spinal dysraphism. During a period of 6 months, we prospectively examined all neonates in our center for the presence of SNFS. Those affected were evaluated for associated anomalies by physical and neurologic examination and ultrasound imaging of the lumbosacral area. Twenty-eight of 3623 neonates (0.77%) were diagnosed as having SNFS. In 64% of the SNFS patients, nevus flammeus simplex (NFS) was noted as well. Physical and neurologic examinations were unremarkable. Ultrasound imaging of the lumbosacral area was performed in 25 patients (89%) and revealed diastematomyelia in one. The results show that SNFS may constitute the only cutaneous sign of spinal dysraphism. In conclusion, we recommend that neonates with SNFS be investigated for occult spinal dysraphism.

Monilethrix: mutational hotspot in the helix termination motif of the human hair basic keratin 6.

Monilethrix is a rare autosomal dominant disease characterized by hair fragility and follicular hyperkeratosis. Mutations in the human basic hair keratins hHb1 and hHb6 have recently been reported in this disease. Twelve families and sporadic cases were clinically diagnosed with monilethrix and were available for the study. The gene segment encoding the helix termination motif region of keratin hHb6 was PCR amplified and sequenced. Mutations were recognized in 6 families. Four families had the previously described mutations, Glu413Lys and Glu413Asp. In 2 unrelated families, a novel mutation, Glu402Lys, was identified. No clear association was found between the severity of the phenotype and the mutation carried. Furthermore, heterozygous members of the same family had variable degrees of hair and skin involvement. Homozygous patients identified in one large consanguineous family were more severely affected. Other genetic or environmental factors may also play a role in monilethrix.

Cutis marmorata telangiectatica congenita: clinical findings in 85 patients.

Cutis marmorata telangiectatica congenita (CMTC) is an uncommon, sporadic, congenital cutaneous condition presenting with persistent cutis marmorata, telangiectasia, phlebectasia and possible ulceration of the involved skin, skin atrophy, and undergrowth of the involved extremity. To further the current understanding of this disorder, we analyzed the clinical features of a large series of patients with CMTC. The files of 85 patients with CMTC who were examined in our center over the last 20 years were reviewed. The data recorded included patient sex, age at onset, nature and distribution of the lesions, associated abnormalities, and course of disease. CMTC was characterized by early recognition of the lesions (94% at birth) and equal sex distribution. The lesion was unilateral in 65% of patients and most commonly involved the limbs (69%). Additional capillary lesions, noted in 20% of patients, may well have been an extension of the CMTC itself. Associated anomalies were found in 18.8% of patients. Almost half of the patients showed a definite improvement in the reticular vascular pattern on follow-up. No familial cases of CMTC were noted. CMTC is more prevalent than previously recognized, affects both sexes equally, and has a mostly localized distribution; additional vascular lesions are associated with the disorder, but other anomalies occur less often. Prognosis is generally good.

Growth, puberty, and endocrine functions in patients with sporadic or familial neurofibromatosis type 1: a longitudinal study.

OBJECTIVE: This study prospectively evaluates parameters of growth, puberty, and attained adult height in children with sporadic or familial occurrence of neurofibromatosis type 1 (NF-1), followed up longitudinally, to define the most important factors affecting these parameters. PATIENTS AND METHODS: The study was made up of 89 patients (55 boys, 34 girls) with sporadic (n = 45) or familial NF-1 (13 affected fathers and 31 affected mothers). The average age at referral was 8.9 years (range 8.5-15 years), and the average follow-up period was 8.5 years (6-15 years). A total of 28 patients attained adult height at the time of the report. Anthropometric measurements and bone age determinations were performed at 6- to 12-month intervals. As indicated, central nervous system (CNS) imaging was performed on 60 patients. Serum levels of thyroid stimulating hormone, free T4, lutheinizing hormone, follicle stimulating hormone, testosterone or estradiol, cortisol, and prolactin were measured in all patients periodically, and the pituitary growth hormone reserve was assessed in 32 short patients. RESULTS: CNS pathology was found in 23 of the 89 patients. A total of 6 patients required neurosurgery, and 2 patients had cranial irradiation. Of these patients, 3 were receiving recombinant growth hormone and thyroxin replacement therapy and 5 patients with precocious puberty were treated with a gonadotropin-releasing hormone analog. All other patients had normal endocrine tests. Precocious puberty was recorded in 5 patients and was more common among the familial cases. The 5 patients with precocious puberty also had CNS pathology. Short stature (<10th percentile) was observed in 25.5% of the patients during the prepubertal period with a significant gradual reduction of their relative height for age (standard scores) during puberty. Short adult height was noted in 12 (43%) of 28 patients, and only 50% of the 28 patients attained an adult height that was appropriate for their respective target height. Short stature was more common among patients with familial NF-1, particularly if the father was affected, and among those patients with CNS pathology. Parental short stature was observed in 39% of the mothers and in 33% of the fathers (59% and 54% among the affected parents, respectively). Tall stature (>90th percentile) was observed in 4 of 89 patients (4.5%), who all had CNS tumors. A highly significant correlation was found among all adult height-predicting parameters (r =.79), and attained adult height was best correlated with the target height (r =.7; n = 28). CONCLUSIONS: Short adult height is an important characteristic of NF-1 and deserves to be emphasized in the evaluation and follow-up of these patients during childhood. Short adult height is strongly linked with familial background of NF-1, in particular if the affected parent is the father, and is affected adversely by the relatively poor pubertal growth. Despite normal pituitary gland and thyroid function tests in most children and adolescents with NF-1, increased incidence of precocious puberty was observed. As the clinical expression in the second generation is more pronounced, the underlying mechanism seems to be mediated by genetic factors that are yet undefined.

Iatrogenic cutaneous injuries in the neonate.

BACKGROUND: Iatrogenic cutaneous injuries of the neonate have decreased in number in the last 30 years because of changes in the medical procedures during the prenatal, perinatal, and postnatal periods. OBSERVATIONS: The emergence of such cutaneous injuries derived from the use of instruments, blunt and sharp, from manual manipulations, from medications, and from hesitation or abstaining from intervention. CONCLUSION: The dermatologist, unfamiliar with handling of neonates in the nursery, should be capable of recognizing and dealing with these phenomena when encountered in the acute stage or with their residue.

Neurofibromatosis type 1 in childhood: evaluation of clinical and epidemiologic features as predictive factors for severity.

The authors evaluated clinical and epidemiologic features of neurofibromatosis type 1 (NF-1) as predictive factors of severity of the disease. The data were retrieved from medical records of 110 children with NF-1 followed up during the period 1974-1991 (mean duration of follow-up 6.7 years). Presence of macrocephaly correlated with higher grade of severity of the disease (P = 0.018). Familial NF-1 was more common in patients with grade 4 disease than in children with grade 1 severity (P < 0.05; odds ratio 2.9, confidence limits 0.85-10.5). The specificity of positive family history and macrocephaly as predictive factors for the grade 4 disease was 90% and 89%, respectively, and sensitivity was 71% and 36%, correspondingly. Positive predictive value of familial NF-1 and macrocephaly was 24% and 31%, respectively. In conclusion, although patients with family history of NF-1 and with macrocephaly tend to have more severe disease, the clinical utility of these features as predictive factors for severity is limited.

Palmoplantar eccrine hidradenitis: three new cases and review.

Palmoplantar eccrine hidradenitis (PEH) is characterized by painful erythematous papules and nodules of abrupt onset on the soles of young individuals. The histologic hallmark is a predominant neutrophilic infiltrate surrounding the eccrine gland apparatus. A total of 28 cases have been published since 1988, with a broad variation in the age of patients, symptomatology, associated diseases, clinical course, and histologic features. These different histologic pictures have resulted in several names for this entity, including idiopathic plantar hidradenitis, neutrophilic eccrine hidradenitis, recurrent palmoplantar hidradenitis in children, and idiopathic palmoplantar hidradenitis. We present three cases of this disorder and review the literature on the varying symptomatology, clinical course, and histology that have led to the myriad of names for this disease.

Severe folliculitis with keloid scars induced by wax epilation in adolescents.

Wax epilation is a popular and generally safe technique used to remove unwanted body hair. We describe two adolescent girls who sustained severe folliculitis following wax epilation. Despite treatment with systemic antibiotics and local treatment, their rash evolved to severe permanent keloid scars. We suggest that parents and adolescents should be advised to perform wax epilation in optimal hygienic conditions. Physicians should be aware of this possible sequela and treat it rapidly and aggressively, with both topical and systemic agents, to avert complications.

Neonatal orbital irritant contact dermatitis caused by gentamicin ointment.

The common preventive therapy in our department for newborns' eyes is tetracycline ophthalmic ointment. Due to temporary shortage of tetracycline ophthalmic ointment for one week in December 1991, the preventive therapy given to seventy-one newborns was gentamicin sulfate ophthalmic ointment. Five babies (7 percent of all newborns) experienced marked edema of the eyelids, foci of erythema, and serous exudate within the first days of life. The lesions regressed gradually and disappeared entirely within two to three weeks without any complications. These lesions represent the first description of orbital irritant contact dermatitis in newborns, most probably caused by topical gentamicin preparation. However, one cannot exclude sensitivity to paraben, which is the preservative used in gentamicin ointment, or a synergistic action of both agent and preservative.

Acute haemorrhagic oedema of infancy, a benign variant of leucocytoclastic vasculitis.

Acute haemorrhagic oedema of infancy (AHEI) is an acute leucocytoclastic vasculitis affecting infants and young children. It has a striking appearance of large purpuric skin lesions in a target-like pattern and marked oedema mainly on the face, auricles and extremities. In some patients there is mucosal involvement as well. We present five patients with skin lesions characteristic of AHEI with no visceral involvement and complete resolution within 7-14 days. In three of our five cases, histopathological examination was performed, and demonstrated typical leucocytoclastic vasculitis. Although sometimes confused with Schönlein-Henoch purpura, we suggest that AHEI should be regarded as a separate entity. Clinical criteria for diagnosis are proposed.

Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia. World statistical analysis.

BACKGROUND AND DESIGN: The concurrent finding of neurofibromatosis type 1 (NF), juvenile chronic myelogenous leukemia (JCML), and juvenile xanthogranuloma (JXG) has been repeatedly reported. Juvenile chronic myelogenous leukemia has been found more frequently in patients with NF and may present with various cutaneous manifestations, including JXG. To our knowledge, the relationship among these three entities has never been explored. The purpose of the present study is to explore this relationship by using a systematic review of the literature. We present five demonstrative cases of various associations among NF, JCML, and JXG. RESULTS: A family history of NF was found in 85% to 95% of children with NF and JCML (with or without JXG), as compared with that found in 47% of children with NF and JXG. The observed frequency of the triple association is 30-fold to 40-fold higher than that expected. It is estimated that children with NF and JXG have a 20-fold to 32-fold higher risk for JCML than do patients with NF who do not have JXG. CONCLUSIONS: A concomitant finding of JCML and JXG in children with NF represents a true association, rather than a coincidence. A finding of JXG in an infant with NF should alert a physician to a possible development of JCML.

Coexistence of vitiligo and morphea: a case report and review of the literature.

A patient with both vitiligo and morphea is described. These skin diseases rarely appear concurrently in the same patient, despite the fact that both are thought to an autoimmune etiology. Similar cases that have been reported in the literature are reviewed and discussed.

Pyoderma gangrenosum and sterile multifocal osteomyelitis preceding the appearance of Takayasu arteritis.

A 9-month-old infant had pyoderma gangrenosum (PG) and sterile osteomyelitis. Three years later the patient developed Takayasu arteritis (TA). Sterile osteomyelitis was reported in approximately 30 patients with different skin lesions, but never together with pyoderma gangrenosum. The association of PG and TA has been reported rarely, and then mainly in adults or in children over age 9 years. This rare association should alert physicians with a case of infantile PG of unknown etiology to consider the possible diagnosis of TA.