Hutchinson-Gilford progeria is a rare genetic disorder resulting from mutations in the LMNA gene encoding lamin A/C. In addition to the classical phenotype usually caused by the 1824C>T mutation of LMNA, a number of atypical progeroid syndromes have been described. They have some distinct features, such as skeletal deformities or scleroderma-like skin changes. The underlying defect is usually a homozygous mutation of LMNA, or a combined defect of LMNA and another gene, for example, ZMPSTE-24. We present a 2-year-old girl born to consanguineous parents affected by progeroid syndrome with scleroderma-like skin changes. Genetic analysis revealed the homozygous LMNA mutation 1303C>T (R435C). The same heterozygous mutation was found in the patient's parents and 11 other family members. The progeroid syndrome in our patient shares the signs of two laminopathies: progeria and restrictive dermatopathy. Two other children in the family died at the age of 2 due to a disease similar to that in the proposita. On the basis of the family pedigree we presume that these children probably had the same homozygous LMNA mutation. Scleroderma-like skin changes in infants, associated with growth retardation and dysmorphic features, suggest premature aging syndrome, requiring genetic testing and counseling of asymptomatic carriers of LMNA mutations.

as well as an enhanced proliferative capacity of the regional fibroblasts. 8 Solitary collagenoma has a persistent course without spontaneous resolution.Aplasia cutis congenita may also resemble a scar clinically. However, in our patient, the lesion lacked a flattened epidermis, there was no history of an ulcerated or denuded skin lesion at birth, and there was a decrease in the number of elastic fibres in the dermis; thus aplasia cutis congenita could be excluded. Tuberosclerosis is an autosomal dominant neurocutaneous disorder characterized by connective tissue naevi of the collagen type (Shagreen patch), hypopigmented macules, adenoma sebaceum, periungual fibromas, seizures and mental retardation. In our case, the absence of intracranial findings such as cortical tubers and subependymal nodules on computed tomography scans, and the lack of characteristic clinical features, ruled out the diagnosis of tuberosclerosis.Neuroectodermal abnormalities such as spina bifida, spina bifida occulta, meningocele manqué and diastometamyelia, as was found in our case, have been associated with mid-dorsal hypertrichosis. 9 Solitary collagenoma has not been described as a unique finding in patients with spinal anomalies. It is not possible to establish a relationship between both anomalies. As our patient also has hypertrichosis and a sacral dimple we can only suggest that sacral collagenoma may be considered as an additional marker.In summary, adequate investigations for spinal anomalies should be carried out in patients with sacral dimple associated with cutaneous abnormalities such as solitary collagenoma or mid-dorsal hypertrichosis of the lumbosacral region.SIR, Circumscribed skin lesions during the course of an autoimmune subepidermal bullous disease were originally described by Brunsting and Perry. 1 In their cases blisters and (a) (b) Fig 2. (a) Histopathological examination of the solitary plaque revealed dense and coarse collagen bundles in the dermis (haematoxylin and eosin; original magnification · 15). (b) Computed tomography showed spinal dysraphism, a posterior fusion defect and diastometamyelia.erosions were predominantly localized on the upper part of the back and/or the head, healing with atrophic scars and milia. Further studies demonstrated that these patients had fulfilled the immunoelectron microscopy (IEM) criteria for cicatricial pemphigoid (CP). 2 However, until now there have been only a few well-documented reports on localized epidermolysis bullosa acquisita (EBA). Four separate groups described four single patients presenting blisters localized exclusively to the face or scalp with immunological findings characteristic for EBA. [3][4][5][6] In addition, there is one report on EBA limited to the mucous membrane of the oesophagus in a patient with Crohn disease. 7 We describe two patients with a localized form of EBA who expand the clinical spectrum of this entity.Patient 1, an 8-year-old girl, presented with a 6-month history of numerous vesiculobullous lesions localized symmetrically on the cheeks ...