Biomedical subjects
Publications and source records attributed to A Metzker.
A giant pigmented nevus (GPN) was present in only one of identical twins. Proof of the identical twinship was based on blood group and HLA system findings. The time of appearance of GPN malformation is assumed to be during early embryologic life. Despite previous opinions to the contrary, we suggest that there is no genetic transmission in GPN.
Two cases of aplasia cutis congenita (ACC) are reported. They are unusual in that they presented in the lower extremities, showed blistering and were familial in nature. These lesions tend to heal without surgical intervention and with minimal scarring, and thus the patient can usually be assured of a happy outcome. All these characteristics support the belief that we deal either with a special entity within ACC or an entirely different syndrome.
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77 Vitiligo patients were investigated for their HLA phenotype. Analysis of this material according to age of onset and ethnic origin revealed some significant characteristics. Young Jewish Moroccan patients showed a high frequency of B13 when compared to matching controls. Young patients of Yemenite origin had a strikingly high frequency of BW35. Jewish Yemenites showed a lack of B13 both in patients and in controls. It is suggested that studies by undertaken to clarify this problem further.
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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.
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.
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.
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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.