Erythema gyratum atrophicans transiens neonatale.

An unknown dermatosis was observed in an infant girl. During the newborn period, she had a generalized, patchy, erythematous eruption of about 60 round erythematous patches on the trunk, thighs, head, labial mucosa, and palate. After a few weeks, the lesions became whitish, atrophic, and depressed, and they were surrounded by an erythematous and slightly infiltrated border, which was occasionally lobulated. Histologically, the lesions demonstrated a thin epidermis overlying an edematous dermis. Around the border of the lesions the collagen bundles were infiltrated with mononuclear cells. Granular deposits of IgG, C'3, and C'4 were found at the dermoepidermal junction and around the superficial capillaries. The lesions healed completely and spontaneously within a year.

Diffuse cutaneous reticulohistiocytosis in a child with tuberous sclerosis.

Reticulohistiocytosis, a rare disorder occurring almost exclusively in adults, was seen in "pure" diffuse cutaneous form in an 8-year-old boy who had tuberous sclerosis since birth. The clinical features consisted of many papulonodular lesions, located mainly on the trunk and to a lesser extent on the head and limbs. Histologic findings were distinctive. Ultrastructural examination revealed the presence of pleomorphic cytoplasmic inclusions in almost all of the giant histiocytic cells of the infiltrate.

Benign cephalic histiocytosis.

Benign cephalic histiocytosis is a self-healing non-X, nonlipid cutaneous histiocytosis of children, characterized by a papular eruption on the head. Mucous membranes and viscera are always spared. In the 13 cases reported herein, the children were otherwise in good general health. The disease appeared during the first three years of life, and spontaneous regression was complete by the age of nine years in the four cases healed to date. The histiocytic infiltrate was localized in the upper and middle dermis and contained no lipids at any stage of evolution. All the histiocytes contained coated vesicles, and 5% to 30% also contained comma-shaped bodies in their cytoplasm.

[Cutis marmorata telangiectatica congenita. 4 new cases and review of the literature]. / Cutis marmorata telangiectatica congenita. Quatre nouveaux cas et revue de la littérature.

Cutis marmorata telangiectatica congenita (CMTC) is characterized by a persistent vascular mottling of the skin, usually on the limbs. Four cases (2 males and 2 females) followed up for varying lengths of time are reported. In the first patient, whose vascular lesions were mild, careful re-examination after 10 years revealed some scars. In the second patient the lesions were located on the right side of the body, notably on the leg; 6 years later atrophic scars and a brownish plaque were visible on that leg. In the third patient the lesions occupied almost the entire body, although one side was more affected than the other and hypotrophic; the child's face was asymmetrical because of hypoplasia of the jaw and curvature of the nose; after 1 year the patient's general condition was satisfactory and the skin lesions were less evident but still present. In the fourth patient hypoplasia of a lumbar vertebra was discovered; the skin lesions were similar to those observed in the third patient. Examination of the deep vessels, performed whenever possible, did not show any abnormality, but the possibility of future vascular defects, such as varicosities, must be considered. While some authors emphasize the functional character of the disease, in our opinion the high frequency of multiple associated congenital abnormalities makes CMTC not only a vascular disorder but also a syndrome including other neuroectodermal and mesodermal defects. Therefore, any patient presenting with the cutaneous changes typical of CMTC should be examined with this in mind.

[Prenatal diagnosis of a case of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa]. / Diagnosi prenatale di un caso di epidermolisi bollosa distrofica recessiva di Hallopeau-Siemens.

Fetal dystrophic recessive epidermolysis bullosa of the Hallopeau-Siemens type (EBdr-HS) was prenatally diagnosed in a couple at risk whose previous child was severely affected of the same disorder. Prenatal diagnosis was made at 18 weeks of gestation by ultrastructural examination of fetal skin samples obtained under continuous ultrasonic guidance. Four of the five specimens obtained showed dermal epidermal separation under the lamina densa with athophic and rare anchoring fibrils and superficial collagenolysis. The parents decided to terminate the pregnancy and ultrastructural skin examination of the aborted fetus, performed in multiple sites including the scalp, trunk, abdomen and limbs, confirmed the diagnosis showing no regional variation in the expression of the ultrastructural marker.

[Dermatologic manifestations of tuberous sclerosis in children. A study of 6 cases]. / Le manifestazioni dermatologiche della sclerosi tuberosa in età pediatrica. Studio di 6 casi.

Typical cutaneous findings in tuberous sclerosis are present in over 90% of cases and represent one of the earliest markers of the syndrome. Our study, based on 6 pediatric cases, underlines how the skin manifestations vary with the patient's age. Hypopigmented maculae were usually present at birth and remained often the only clinical sign during the first few years of age. Angiofibromas on the face appeared later and were followed by orange-peel patches and then by periungual fibromas. The high spontaneous new mutation rate of tuberous sclerosis seems to be confirmed by our study in which clinical evaluation of first-degree relatives of all patients was negative.

Epidermolytic hyperkeratosis: generalized form in children from parents with systematized linear form.

Two unrelated families are presented in both of which a child with generalized epidermolytic hyperkeratosis (congenital bullous ichthyosiform erythroderma) had a parent with linear epidermolytic hyperkeratosis (epidermolytic epidermal naevus). Light and electron microscopy of skin biopsies of lesions from the children and parents showed typical epidermolytic hyperkeratosis. Gonadal mosaicism in patients with linear epidermolytic hyperkeratosis may be responsible for transmission of the abnormality to the offspring.

Fatal nodular xanthomatosis in an infant.

We describe a unique and puzzling case of a 7-month-old baby with a non-X hypertriglyceridemic histiocytoxanthomatosis. The disease was characterized by a massive nodular eruption that was clinically, histologically, and ultrastructurally consistent with juvenile xanthogranuloma, but it had a rapid, fatal evolution.

Keratosis punctata palmaris et plantaris as an expression of focal acantholytic dyskeratosis.

An 11-year-old girl affected by keratosis punctata palmaris et plantaris, histologically showing focal acantholytic dyskeratosis, is described. This case demonstrates that keratosis punctata palmaris et plantaris may represent a new clinical expression of persistent multiple focal acantholytic dyskeratosis.

Pityriasis lichenoides in children: a long-term follow-up of eighty-nine cases.

Pityriasis lichenoides is usually classified into an acute and a chronic form. From a review of 89 cases of the disease seen since 1974 it seems that a more realistic classification into three main groups, according to the distribution of pityriasis lichenoides lesions, could be made, namely, a diffuse, a central, and a peripheral form, each characterized by a different clinical course. Conversely, no correlations were detected in our series between the severity of skin lesions and their distribution or the overall course of the disease. None of our cases suggests the possible evolution of pityriasis lichenoides into lymphomatoid papulosis. Although no infectious causative agent has been identified, a viral origin seems likely in some cases. Most patients responded favorably to UVB irradiation. Our conclusions are (1) that pityriasis lichenoides is probably a clinical disorder with a diverse etiology and (2) that its classification by distribution seems more useful than its subdivision into an acute and a chronic form.

Hypochromic reticulated streaks in incontinentia pigmenti: an immunohistochemical and ultrastructural study.

A 25-year-old woman who recently gave birth to a baby affected by classic lesions of incontinentia pigmenti (IP), had hypochromic, atrophic, and reticulated streaks on both lower limbs. Her personal history was unremarkable for IP, and physical examination revealed no other cutaneous signs of the disease. Immunohistochemical and electron microscopic studies were performed on biopsies obtained from both normal and hypochromic skin of the leg. Hypochromic skin showed epidermal atrophy and lack of adnexae, without significant melanocyte abnormality. As demonstrated by this patient, hypochromic reticulated streaks can represent the only cutaneous marker of IP in adulthood. Careful search for such skin lesions in the mother of a child with IP is essential in order to ascertain whether there is a risk of its occurrence in future offspring.

Generalized eruptive histiocytoma in children.

Generalized eruptive histiocytoma is a papular, non-X, nonlipidic, self-healing histiocytosis affecting mainly adults. This article describes the clinical, histologic, ultrastructural, and immunologic findings in four children, aged 10 months to 4 years, who were suffering from this disease. Generalized eruptive histiocytoma of children differs from generalized eruptive histiocytoma of adults only in that the lesions are not symmetrically distributed, they do not affect the mucous membranes, and they may become xanthomatous.

Gianotti-Crosti syndrome: a retrospective analysis of 308 cases.

BACKGROUND: There is no agreement as to whether papular acrodermatitis of childhood caused by hepatitis B virus can be differentiated from other papulovesicular acrolocated syndromes. OBJECTIVE: We attempted to establish whether such differentiation is possible comparing histories, signs, and symptoms of all patients who have been previously diagnosed as having papular acrodermatitis of childhood or papulovesicular acrolocated syndromes. METHODS: Files of 308 patients hospitalized in the past three decades were studied. Photographs were examined by a panel of experts to determine whether it was possible to distinguish between papular acrodermatitis of childhood and papulovesicular acrolocated syndromes solely on the basis of cutaneous signs. RESULTS: The retrospective analysis confirmed a significant overlapping of the two types of the disease. The blind survey of photographs of the patients revealed that a distinction between the forms was not clinically possible. CONCLUSION: Acrodermatitis is a self-limiting cutaneous response to different viruses; clinical differences are probably due to individual characteristics of each patient rather than the causative virus.

Multiple familial smooth muscle hamartomas.

Smooth muscle hamartoma is a cutaneous abnormality characterized by a disorganized proliferation of normal muscle fibers of arrector pili. Usually a single congenital hypertrichotic plaque involves the trunk and the extremities. Multiple lesions have rarely been reported in the literature. We describe three members of the same family with multiple skin-colored patches on the back and legs, histologically confirmed as smooth muscle hamartomas. To our knowledge this is the first report of multiple smooth muscle hamartomas in different members of the same family and quite interestingly involving the same skin site.

Paediatric coeliac disease and dermatitis herpetiformis: differences in complement activation in relation to diet.

We studied complement (C') involvement in paediatric coeliac disease (CD) and dermatitis herpetiformis (DH) in relation to lesions and function of enteric mucosa and to diet. For this purpose, 50 children affected by CD and 42 affected by DH were subdivided in 3 groups: in the first (I) were included subjects in free diet, in the second (II) children during gluten-free diet (GFD) and in the third (III) subjects after gluten reintroduction in diet. Only in CD we found significant modifications of some C' parameters. In fact C3 and C4 levels increase in II group in GFD (respectively p less than 0.02 and p less than 0.03) and result inversely correlated to an arbitrary score for the evaluation of the enteric histological lesions (p less than 0.02 and p less than 0.01). C3d/C3 ratio levels, as catabolic index of C3, result always greater than normal in both diseases, but significantly decrease only in II group of CD children (p less than 0.02), where they result also positively correlated to the histological score (p less than 0.05). Circulating immune complex-like material is higher in DH, but incidence of pathological values decrease in II group only in CD (p less than 0.04). These data suggest probable significant differences in the pathogenetic mechanisms of CD and DH involving C'.

Multiple pilomatricomas in Rubinstein-Taybi syndrome: a case report.

Rubinstein-Taybi syndrome is a multisystem developmental disorder due to an autosomal dominant mutation. It is clinically defined by the presence of peculiar facies, mental retardation, and broad thumbs and first toes. Important dermatologic findings include hirsutism, keloids, hemangiomas, and dermatoglyphic abnormalities. We report a 12-year-old girl with the typical phenotype of Rubinstein-Taybi syndrome, associated with numerous pilomatricomas. These are benign epithelial neoplasms with hair cell differentiation that may have a familial transmission. Pilomatricomas have not been reported in patients with Rubinstein-Taybi syndrome, although their association with myotonic dystrophy, another autosomal dominant disorder, is well known. Possibilities to explain the association include contiguous gene syndrome, the action of a pleiotropic gene, predisposition to malformations, and mere coincidence.

A case of congenital reticular ichthyosiform erythroderma--ichthyosis 'en confettis'.

We describe the third case of congenital reticular ichthyosiform erythroderma (CRIE), a rare inherited keratinization disorder, the second with the peculiar reticulate skin pattern. The same case had been previously described and defined, for the clinical appearance, as ichthyosis 'en confettis'. An 18-year-old girl was born with the clinical features of an erythrodermic lamellar ichthyosis. Patches of normal skin enclosed by erythematous-ichthyotic skin in a reticular arrangement appeared on the trunk at the age of 10 years, and they enlarged slowly during 6 years. The treatment with etretinate, started 2 years ago, further increased this process. Another peculiar clinical feature is a remarkable hypertrichosis. At the ultrastructural level, perinuclear deposits of filamentous material in vacuolized keratinocytes of the upper epidermis, pathognomonic for CRIE, were demonstrated. This suggests that CRIE and ichthyosis 'en confettis' are the same disorder. In addition the peculiar clinical presentation of this rare genodermatosis develops only during late childhood and puberty. The identification of three sporadic cases only leaves the problem of inheritance still unsolved.