Thomson-type congenital poikiloderma with major bone dysplasias

The authors report one case of Thomson type congenital poikiloderma with major bone dysplasias. Acroplasia of all extremities with agenesis of tibia and radius, and a peculiar aspect of the face are in contrast with the scarcity of cutaneous symptoms, the absence of consanguinuity, cataract, photosensitivity. The position of Thomson type congenital poikiloderma among the congenital poikilodermas is reviewed.     

Monocytic aleukemic leukemia cutis

Congenital poikiloderma is an uncommon hereditary disorder. It has been reported in association with various syndrome. No case has previously been reported from this environment. We report a case of congenital poikiloderma in a two and a half year old female Nigerian associated with unusual generalised hypopigmentation and acral blisters at birth. The child subsequently developed macular hyperpigmentation on an erythematous background and atrophy of the skin. Although she had some features which were suggestive of Rothmund-Thomson syndrome (RTS), the presence of hypopigmentation at birth, along with acral blistering, was noted to be peculiar to this child. We, therefore, feel that this case presents a distinct variant of congenital poikiloderma that has not been described previously.     

伴大疱的先天性皮肤异色症1家3例报告

报告1家3例患伴大疱的先天性皮肤异色症。先证者(15岁)及其姐(17岁)具有先天性皮肤异色，自发性或创伤性水疱形成，进行性皮肤萎缩、光敏感，出血性牙龈炎及甲营养不良性改变。皮损组织病理检查：皮表萎缩，真表皮间裂隙形成。电镜检查：棘细胞内含大量黑素颗粒。染色体图像分析显示核型为46.XX.1h^ ，结构畸变率为lh^ :100％。其弟出生8d后出现水疱，8个月时死亡。     

Epidermal dysplasia and skeletal deformity in congenital poikiloderma (Rothmund-Thomson syndrome)

Two sisters with congenital poikiloderma (Rothmund-Thomson syndrome) are described. One sister developed numerous keratotic lesions on the skin at an early age; these showed histological, ultrastructural and autoradiographic features of dysplastic change. The second sister had severe skeletal involvement in addition to the cutaneous poikiloderma, but no keratotic lesions. The clinical features of these cases demonstrate the variation in phenotypic expression of this disorder within a single family.     

外阴硬化性萎缩性苔藓伴先天性皮肤异色症1例

报告1例外阴硬化性萎缩性苔藓伴先天性皮肤异色症。患者女性，17岁，因外阴白斑伴瘙痒8年就诊。皮损主要表现为外、会阴及肛周有呈哑铃状角化白色斑片，胸背及双上肢伸侧有网状色素沉着斑，伴毛细血管扩张和轻度萎缩性白斑，家庭中有皮肤异色症患者。组织病理改变符合硬化性萎缩性苔藓。     

Rothmund-Thomson's syndrome--a case demonstrating prominent hyperkeratosis and literature review

A patient, 21-year-old japanese man demonstrating many of the changes seen in the Rothmund-Thomson's syndrome is presented. In particular the hyperkeratosis palmo-plantar hyperkeratosis and warty hyperkeratosis on the hand and feet are prominent clinical features in this patient. The literatures describing hyperkeratosis in the Rothmund-Thomson's syndrome are reviewed and the clinical feature as well as diagnostic value of the hyperkeratosis is discussed.     

Congenital poikiloderma with verrucous hyperkeratosis. An unusual form of Thomson's syndrome?

A 50 year old male patient suffered from poikilodermatous skin since his 14th year of life. During the past 5 years hyperkeratotic plaques and squamous cell carcinomas developed, leading to metastases into lymph nodes and the lung and fatal outcome. To our knowledge, up to now 6 cases of congenital poikiloderma (Thomson-syndrome, Rothmund-Thomson-syndrome) in conjunction with verrucous hyperkeratosis and squamous cell carcinoma have been reported in the literature.     

Granulomatous mycosis fungoides presenting as poikiloderma

Granulomatous mycosis fungoides (MF) is a rare subtype of MF, characterized by the histological presence of a granulomatous reaction, but distinct clinical characteristics are not present. A 41-year-old healthy man presented with poikiloderma, ichthyosis and erythematous scaly plaque. Histological examination of a biopsy taken from poikilodermic skin showed a granulomatous reaction to epidermotropic atypical lymphocytes. However, in other areas there were only findings of conventional MF without granuloma. Granulomatous MF may be associated with poikiloderma.     

Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?

We report the case of a young patient who presented with dysmorphism, bullous eruption of childhood, cutaneous and muscular atrophy and hyperpigmentation. Attempts were made to find out where this case fits in the nosological framework. This young boy without any particular family history was born with facial dysmorphism consisting of micrognathia, right microphtalmos, gothic palate and left facial palsy of the peripheral type. At the age of 2 years and 9 months, generalized fragility of the skin appeared in the form of a recurrent bullous eruption. The bullae left numerous atrophic and depigmented scars; they spared the mucosae, and there was no photosensitivity. At the same time, generalized skin atrophy developed: the subcutaneous venous network was abnormally visible and there was diffuse hyperpigmentation. The hair was fine, curly and thin. The teeth dystrophic and abnormally positioned. The cornea of the right eye was invaded by conjunctiva. The bullous eruption subsided when the child was about 6 years' old, but the skin atrophy became worse and was accompanied with amyotrophy of the limbs and retraction in flexion of the joints at the extremities. Chronic ulcerations were present on the lower limbs. Statural and ponderal growth, as well as mental development were normal. The biochemical examinations performed revealed no abnormality. Light and electron microscopy of the skin showed a normal dermis-epidermis junction, but the anchorage fibres were rarefied. The dermal connective tissue was abnormal, with thin collagen fibres and disorganized fibrillae. Fibroblasts were hypoplastic and numerous. The elastic network was meagre and elastic fibres had a slashed appearance. Biopsy of a palmar nodule showed cheloid-like lesions. The nosological discussion involved some congenital bullous diseases and certain forms of connective tissue dystrophia. Among the bullous diseases, congenital poikiloderma, as described by Weary and Kindler, is unaccompanied with amyotrophy, articular retraction or dysmorphism. According to Verret et al., the bulla is located at the dermis-epidermis junction. Recessive dystrophic epidermolysis bullosa seems to differ from our case in that skin atrophy is localized and amyotrophy, dysmorphism and disorders of pigmentation are absent. In addition, we found no histological evidence of collagenolysis. Mendes Da Costa's bullous dystrophy can be excluded, as there was no nanism, microcephaly or diffuse alopecia in our patient. Among connective tissue dystrophias, acrogeria Ehlers-Danlos type IV syndrome does not include bullous eruption, amyotrophy or articular retraction.(ABSTRACT TRUNCATED AT 400 WORDS)     

Kindler syndrome. Case report with ultrastructure study

A case is reported of a 20 year-old man who had progressive poikiloderma, cutaneous atrophy, plantar keratosis, and, from birth, blister formation regressive in infancy. Ultrastructural study performed on poikilodermic and atrophic lesions showed that dermoepidermal "clefts" or " vacuolizations " observed in optical microscopy did correspond to a cleavage between lamina densa and undamaged basal cells membrane. Sixty cases of congenital poikiloderma with blisters and keratosis have been reviewed in the literature; 13 out of these, are as the present case, similar to the original observation of Th. Kindler ; the common clinical features of these cases (cutaneous atrophy, mucous membrane involvement) and probably autosomic recessive inheritance, allow to consider, according to the authors opinion, Kindler 's syndrome as a peculiar entity.     

Congenital poikiloderma syndrome with early childhood blister formation (Brain syndrome) and unusual associated neurologic symptoms]

We report on an 8-year-old girl with manifestations of congenital poikiloderma during her first year of life. Macroscopically, there was reticular teleangiectasia on cheeks and thighs, generalized de- and hyperpigmentation, dry skin with pityriasiform scaling and milia as a result of former blister formation. Histologically and ultrastructurally cytoid bodies, probably of keratinocyte origin, were observed. Associated findings were leucocytopenia, hyperlipoproteinaemia, spastic ataxia and lack of teeth. There is consanguinity in the family, but 3 sisters, the parents and the ancestors were completely healthy. Because of transient blister formation on the face, upper arms and elbows we would like to classify our case as Brain syndrome.     

Congenital localized absence of the skin as a manifestation of epidermolysis bullosa.

BACKGROUND--Congenital localized absence of the skin has been observed in various subsets of inherited epidermolysis bullosa. Through electron microscopy and immunomapping, we attempt to clarify the relationship of congenital localized absence of the skin lesions to epidermolysis bullosa. OBSERVATIONS--The case of a child with epidermolysis bullosa simplex and congenital localized absence of the skin is presented. Electron microscopy and immunomapping of the areas of congenital localized absence of the skin and sites of skin fragility suggest that these lesions are pathogenically identical. CONCLUSION--After reviewing the literature, we believe that the term Bart's syndrome should be used to identify patients with any type of epidermolysis bullosa who present with localized congenital absence of the skin on the extremities.     

Scleroderma-like changes in chronic graft vs host disease.

A case of chronic graft vs host disease had scleroderma-like skin changes. Clinical progression was from poikiloderma to scleroderma, and histopathological changes and results of direct immunofluorescence were noted. It is probable that both cell-mediated (T-cell) and humoral (B-cell) mechanisms contribute to the pathogenesis of the graft vs host reaction.     

Congenital poikiloderma with traumatic bulla formation, anhidrosisi, and keratoderma.

A 14-year-old boy with congenital poikiloderma had anhidrosis, palmoplantar-pitted keratoderma, traumatic bulla formation, and defective dentition, but no abnormalities of the hair, nails, or eyes. This patient was similar in some respects to others reported as having dermatopathia pigmentosa reticularis, the Franceschetti-Jadassohn syndrome, the Mendes da Costa syndrome, and acrokeratotic poikiloderma.     

Poikiloderma-like Cutaneous Amyloidosis in an Ethnic Chinese Girl

Primary cutaneous amyloidosis is the deposition of amyloid in the skin without involvement of internal organs. It is easily diagnosed when presented in its typical manifestation. Atypical or rare clinical presentations can pose diagnostic difficulties. Poikiloderma-like cutaneous amyloidosis (PCA), a rare variant of primary cutaneous amyloidosis, was first reported in the literature in 1936 (1). It is characterised by: 1) poikilodermatous skin lesions; 2) lichenoid papules; 3) cutaneous amyloid deposit in the pigmented and lichenoid lesions; 4) light sensitivity; 5) short stature; and 6) other features such as blister formation or palmoplantar keratosis. Ogino coined the term PCA syndrome when these unusual features present early in life (2). We report a 26-year-old Chinese woman who presented with poikilodermatous skin lesions and was misdiagnosed as poikiloderma atrophica vasculare (PAV) on the basis of clinical appearance without any histological proof. The diagnosis of PCA was made after skin biopsy which showed amyloid deposits in the skin. This condition can easily be confused with other true poikiloderma skin diseases. Histology is important in confirming the diagnosis.     

Kindler syndrome: a new mutation and new diagnostic possibilities

BACKGROUND: Kindler syndrome (KS) is a rare genetic disorder that is characterized by blistering in infancy, followed by the onset of poikiloderma and photosensitivity in childhood. The recently elucidated molecular pathogenesis involves mutations in KIND1, a gene encoding the protein kindlin-1, which is involved in the attachment of the actin cytoskeleton to the extracellular matrix in basal keratinocytes. OBSERVATIONS: We describe a child with the neonatal diagnosis of epidermolysis bullosa simplex who developed poikiloderma and skin fragility at 6 years of age. His skin showed diminished staining with anti-kindlin-1 antibody, and genetic analysis revealed that he was a compound heterozygote with a previously unreported mutation in KIND1. Ultrastructural clues to the diagnosis of KS were present in a biopsy specimen that was obtained when the patient was 10 months old, before he developed poikiloderma and photosensitivity. CONCLUSIONS: In this case, a combination of a known mutation (R271X) and a newly described mutation (1755delT) in the KIND1 gene produced loss of function in kindlin-1, leading to the clinical features of KS. Ultrastructural findings characteristic of KS were evident years before the onset of poikiloderma and sun sensitivity. In infancy, electron microscopy can enable early, accurate diagnosis of KS.     

Kongenitale bullöse Poikilodermie (Kindler-Syndrom)

We report on an 18 years old female patient who presented with synechia of the labia. History reveals congenital blistering with acral localization and photosensitivity in childhood. At present, the patient showed wide-spread poikoloderma with reticulate hyperpigmentation, xerosis, proximal synechia between fingers and toes and absence of dermatoglyphics, suggestive for congenital bullous poikiloderma (Kindler syndrome). The diagnosis was confirmed by histology and electron microscopy. Kindler syndrome is a rare, autosomal recessive disorder with synechia of mucosal areas being the presenting symptom.     

Argon laser treatment of cutaneous vascular lesions in connective tissue diseases

Two patients with juvenile dermatomyositis, 5 with chronic discoid lupus erythematosus, and one with Rothmund-Thomson's Syndrome were treated for their teleangiectasias of the face with argon laser. The results were highly satisfactory with an almost normal appearance of treated skin in 4 patients. Two patients showed satisfactory results with 60-70% blanching, while 2 patients showed some improvement, but not a completely cosmetically satisfactory result. The most impressive results were in the patients with juvenile dermatomyositis and Rothmund-Thomson's Syndrome. The only side effects observed were a slight scarring and an insignificant pigmentation. No patient displayed any signs of disease activation.     

Development and validation of the Dermatomyositis Skin Severity Index

BACKGROUND: Dermatomyositis is an autoimmune inflammatory muscle disease with characteristic cutaneous findings of heliotrope eruption, Gottron's papules and a photodistributed eruption with poikiloderma. OBJECTIVES: To develop and validate a tool to assist with objective assessment of the skin disease of dermatomyositis. METHODS: A skin severity index was developed; content validity was evaluated by a panel of experts, and construct validity was assessed by convergence with other measures of disease severity including physician's global assessment of disease, specific skin disease changes (ulceration, poikiloderma and pruritus), and quality of life. Test and retest reliability and interobserver reproducibility were determined. RESULTS: In total, 98 subjects were enrolled. The Dermatomyositis Skin Severity Index (DSSI) showed significant correlation to the physician's global assessment, assessments of poikiloderma and self-assessment of pruritus. Inter-rater reliability showed strong correlations from 0.73 to 1. Test-retest (intrarater reliability) was completed on 33 subjects, and showed correlations above 0.75. The ability of this tool to detect clinical changes with treatment has not been fully evaluated. CONCLUSIONS: The DSSI is a valid and reliable measure of skin disease severity in dermatomyositis and can be used in future clinical trials as an assessment tool.     

Congenital hemangiopericytomas of skin

A case of multiple congenital hemangiopericytomas of skin treated by surgical excision is presented. No recurrence of the lesions has occurred after a period of 2 years.