Stefano Cambiaghi

Frequent association between MEN 2A and cutaneous lichen amyloidosis.

objective Multiple endocrine neoplasia type 2A (MEN 2A) and familial medullary thyroid carcinoma (FMTC) are genetic diseases due to activating mutations of the RET proto‐oncogene. Affected patients develop medullary thyroid carcinoma (100%), in an isolated form (FMTC) or in association with phaeochromocytoma (30–50%), and primary hyperparathyroidism (10–20%) (MEN 2A). The presence of cutaneous lichen amyloidosis (CLA) has been anecdotally described in few families harbouring RET proto‐oncogene mutation in codon 634. The aim of the study was to evaluate the incidence of CLA in MEN 2A/FMTC families.

Multiple pilomatricomas in Rubinstein-Taybi syndrome. A case report

Abstract: Rubinstein‐Taybl syndrome is a multisystem developmental disordar due to an autosomal dominant mutation. It Is clinically defined by the presence of peculiar facles, mental retardation, and bread thumbs and first toes. Important dermatologic findings include hirsutism, keiolds, hemanglomas, and dermatoglyphic abnormalities. We report a 12‐year‐old girl with the typical phenotype of Rubinsteln‐Taybi syndrome, associated wtth numerous ptlomatrloomas. These are benign epithelial neoplasms with hair eel differentiation that may have a familial transmission. Pilomatricomas have not been reported in patterns with Rubinstem‐Taybl syndrome, although their association with myotonlc dystrophy, another autosomal dominant disorder, is well known. Possibilities to explain the association Include contiguous gens syndrome, the action of a piefotropic gene, predisposition to malformations, and mere coincidence.

Rapp-Hodgkin syndrome and AEC syndrome: are they the same entity?

Summary Rapp‐Hodgkin syndrome and AEC syndrome are two disorders in which ectodermal dysplasia and clefting are associated. Rapp‐Hodgkin syndrome is an autosomal dominant condition characterized by cleft lip and palate, peculiar craniofacial features, and ectodermal dysplasia, consisting of abnormalities of teeth, hair, nails and sweating. AEC syndrome manifests the same defects plus ankyloblepharon and a higher frequency of scalp dermatitis. A child affected by ectodermal dysplasia associated with clefting, ankyloblepharon, severe scalp dermatitis, and the characteristic Rapp– Hodgkin fades is reported. The overlap between Rapp–Hodgkin syndrome and AEC syndrome is discussed. Critical review of both disorders suggests that AEC syndrome and Rapp–Hodgkin syndrome represent the same entity.

Epidermolysis Bullosa Pruriginosa

Epidermolysis bullosa (EB) pruriginosa is a rare clinical subset of dystrophic EB, characterized by marked itching and presence of prurigo-like or lichenoid features. In order to further delineate the phenotype and understand the pathogenesis of this disorder, the clinical, histological and ultrastructural findings of a 19-year-old patient presenting a typical form of EB pruriginosa are described. The prevalence of papular itchy lichenoid lesions, signs of scratching and paucity of blisters at the time of clinical examination may result in incorrect diagnosis and treatment. Microscopic studies of the lesions show the typical findings of dystrophic EB associated with an unusually high density of collagen bundles and absence of elastic fibres in the upper dermis. Itching lichenoid lesions of EB pruriginosa could represent an abnormal dermal reactivity of some patients to their inherited bullous disorder.

Uncommon Clinical Presentations of Juvenile Xanthogranuloma

Two unusual clinical presentations of juvenile xanthogranuloma (JXG), the most common non-Langerhans cell histiocytosis, are described: a flat ‘plaque-like’ and a ‘paired’ form. This report confirms the great variability of JXG. Besides representing a dermatological curiosity, the recognition of these atypical forms of presentation should facilitate the clinical diagnosis of the disorder.

Aplasia Cutis Congenita in Surviving Co-twins: Four Unrelated Cases

Four unrelated patients born from twin pregnancies and showing extracranial aplasia cutis congenita are reported. All the patients lost their co‐twins during the first half of the pregnancy. Two of the patients had the characteristic truncal and symmetrical type of aplasia cutis associated with fetus papyraceus and placental abnormalities. The presence of multiple hepatic hematomas in one of them gives further credit to a “vascular disruption” as the possible pathogenetic mechanism of the disorder. The two other patients were born with symmetrical aplasia cutis at the extensory aspects of both knees, which presumably represents a milder expression of the former defect. Thus the so‐called aplasia cutis with fetus papyraceus shows heterogeneity in localization, extension, presence of extracutaneous abnormalities, and possible association with fetus papyraceus at birth. To include all the patients affected by this peculiar type of aplasia cutis congenita, the designation of aplasia cutis with extracranial symmetrical involvement is proposed.

Asymmetric Periflexural Exanthem of Childhood: Report of Two New Cases

Abstract: A newly described exanthem of infancy consists of an eczematous or scarlatinltorm eruption that starts initially from one axillary fold and spreads unilaterally and centrifugally on the trunk and the proximal part of the upper limb. Minor lesions are infrequently present on the contralaterai side. The rash may be slightly pruritic and sometimes associated with a moderate regional lymphadenopathy. The appearance in small epidemics and the seasonal prevalence imply a viral agent as the probable origin. We report two new cases of this entity, which appears to be not so rare.

Widespread Porokeratotic Eccrine Ostial and Dermal Duct Nevus Along Blaschko Lines

Abstract:  Porokeratotic eccrine ostial and dermal duct nevus is a congenital hamartoma of possible eccrine origin with no malignant potential. It is usually localized at the extremity of a single limb, while wider systematized distribution has rarely been documented. A child with an unusually widespread nevus following Blaschko lines is reported. The disorder had a striking presentation in the form of a systematized linear epidermal nevus composed of multiple tiny filiform keratotic spines, which histologically corresponded to columns of porokeratosis. Serial histopathologic sections of a 4‐mm punch biopsy specimen barely demonstrated an anatomic relationship between the porokeratotic columns and the underlying acrosyringeal duct. This report provides further evidence of porokeratotic eccrine ostial and dermal duct nevus being distributed along Blaschko lines, thus confirming it is a peculiar epidermal nevus due to a mosaic cutaneous condition.

Proteus syndrome: Ultrastructural study of linear verrucous and depigmented nevi

Proteus syndrome is a rare hamartomatous disorder characterized by multifocal overgrowths that can involve any structure of the body. Clinical manifestations include macrodactyly, hemihypertrophy, subcutaneous masses, exostosis, cerebroid thickening of palms and soles, and linear skin lesions. About 50 cases have been described, but the ultrastructural features of the linear skin lesions have not been characterized. We describe the clinical, histologic, and ultrastructural findings for a 30-year-old patient who had a mild form of Proteus syndrome with linear lesions characterized by a mixed pattern of hyperkeratosis and depigmentation. Light microscopy of the linear nevus showed acanthosis and hyperorthokeratosis. Electron microscopy revealed extensive vacuolation at the interface between melanocytes and keratinocytes, with large aggregations of densely packed granules in the intercellular space. Melanocytes showed only slight degenerative changes. An immunohistochemical study of the expression of epidermal growth factor receptors revealed no significant abnormalities.

Skin dimpling as a consequence of amniocentesis

No reports of cutaneous lesions after amniocentesis have been published after the advent of real-time ultrasonography. Two infants with multiple skin dimpling caused by needle puncture during fetal life are described. They had pitted scars on the thighs and abdomen that were not associated with internal injury. Both mothers had undergone a diagnostic amniocentesis at the beginning of the second trimester of pregnancy. Real-time ultrasound monitoring of amniocentesis has not completely eliminated the risk of needle puncture scarring of the fetus.