RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.

Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes.

Angora hair nevus. A further case of an unusual epidermal nevus representing a hallmark of angora hair nevus syndrome.

Background: The association of Blaschko lines with genetic mosaicism has lead to the concept that this pattern represents the manifestation of genetically abnormal skin tissue contrasting with the genetically normal skin. Various mosaic defects affecting not only the skin but also extracutaneous tissues have lead to the description of different types of epidermal nevus syndromes. We present a further case of an unusual organoid epidermal nevus characterized by depigmented hypertrichosis.

Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.

Acanthosis nigricans has been described in several autosomal dominant skeletal dysplasia syndromes due to germline FGFR3 mutations, but rarely specifically in patients with hypochondroplasia. We report a child who presented with extensive acanthosis nigricans, short stature, and radiographic evidence of hypochondroplasia. Genetic analysis revealed a heterozygous K650Q mutation in FGFR3.

Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.

Desmosomes are intercellular adhesive junctions and attachment sites for the intermediate filament (IF) cytoskeleton, prominent in tissues subject to high levels of mechanical stress such as the epidermis and heart. The obligate desmosomal constituent, plakoglobin (PG), is involved in coupling transmembrane desmosomal components with IFs. PG also contributes to intercellular adhesion through adherens junctions and has additional signaling roles.

Pronounced linear calcinosis in a boy with mild dermatomyositis. A further possible example of superimposed segmental manifestation of a polygenic disorder.

A pronounced linear eruption with ulcerations and calcium extrusion present in a boy with a mild generalized rash clinically consistent with juvenile dermatomyositis or overlap syndrome is reported. Loss of heterozygosity (LOH) is a postzygotic mechanism by which a heterozygous somatic cell may become homozygous or hemizygous at a given gene locus. Such a mechanism can be suspected when a pronounced segmental manifestation of an acquired skin condition with a polygenic background is found to be superimposed on more or less symmetrically distributed nonsegmental lesions of the same disorder.

IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.

Ichthyosis follicularis with atrichia and photophobia (IFAP syndrome) is a rare X-linked, oculocutaneous human disorder. Here, we assign the IFAP locus to the 5.4 Mb region between DXS989 and DXS8019 on Xp22.

PORCN mutations in focal dermal hypoplasia: coping with lethality.

The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X-chromosome. Molecular characterization of 24 unrelated patients from different ethnic backgrounds revealed 23 different mutations of the PORCN gene in Xp11.23.

[Dermatopathy associated with levamisole-induced reversible posterior leukoencephalopathy].

Levamisole is an antihelmintic drug that stimulates antibodies formation increasing both T response, and neutrophilic response, and quimiotaxis. It is used in dermatology for the treatment of plane warts, erythema multiforme, aphtous ulcers and, with prednisone, in lichen planus. With prolonged use this drug has been implicated in adverse dermatological reactions as lichenoid eruptions, ulcers and vasculitis.

Cutis tricolor coexistent with cutis marmorata telangiectatica congenita: "phacomatosis achromico-melano-marmorata".

An 8-year-old mentally retarded boy had paired segmental areas of hyper- and hypopigmentation on the left side of his body in association with cutis marmorata telangiectatica congenita (CMTC) involving the trunk and the limbs, with the exception of parts of his right arm. At the age of 4 years, an aneurysmatic nodular lesion developed in the angle of his right elbow, and subsequently two similar lesions emerged on his forehead and scalp. Moreover, a dysmorphic facial appearance, scoliosis, genu valgum, talipes planus and increased laxity of joints were noted.

Phacomatosis pigmentokeratotica: a follow-up report documenting additional cutaneous and extracutaneous anomalies.

This is a follow-up report on a boy with phacomatosis pigmentokeratotica. At the age of 10 years he had, in addition to a sebaceous nevus and a speckled lentiginous nevus, multiple lesions of a collagen nevus localized on the chin and in the lumbar area. On the left shoulder, a small telangiectatic spot was present within the area of the speckled lentiginous nevus.

Geroderma osteodysplastica. Report of a new family.

We report a family in which geroderma osteodysplastica affected two male siblings. They showed the characteristic features associated with this syndrome: a prematurely aged face with wrinkly, lax skin, more prominent on the acral regions, associated with joint laxity, osteoporosis, and skeletal abnormalities. The main histologic abnormalities were fragmented elastic fibers that were diminished in number.

Desmoplastic hairless hypopigmented nevus (DHHN). A distinct variant of giant melanocytic nevus.

Desmoplastic hairless hypopigmented nevus (DHHN) is the name Ruiz-Maldonado et al. gave to a new variant of giant congenital melanocytic nevus characterized clinically by a hard ligneous consistency, absence of hair and progressive loss of pigment. Histologically, dermal fibrosis consistent with desmoplasia is a predominant feature.

Nevus psiloliparus and aplasia cutis: a further possible example of didymosis.

Nevus psiloliparus is a distinct type of mesodermal nevus of the scalp characterized by absence or paucity of hair, and presence of an excessive amount of fatty tissue. It is considered a hallmark of encephalocraniocutaneous lipomatosis, a rare disorder comprising a variety of cutaneous, ophthalmologic, and neurologic defects. We report two infants with encephalocraniocutaneous lipomatosis with nevus psiloliparus on the scalp in close association with aplasia cutis congenita.

Familial cutaneous collagenoma: a clinicopathologic study of two new cases.

Two siblings with familial cutaneous collagenoma syndrome had the essential clinical features of multiple skin-colored nodules on the trunk and upper arms. On light microscopy, histopathologic findings included excessive accumulation of dense, coarse collagen in the dermis. Elastic tissue stains demonstrated a proportionately diminished number of abnormal elastic fibers intermingled with the collagen bundles.

Linear porokeratosis associated with disseminated superficial actinic porokeratosis: a new example of type II segmental involvement.

The coexistence of linear porokeratosis (LP) and disseminated superficial actinic porokeratosis (DSAP) in a 3-year-old girl with a family history of DSAP is presented. Happle proposed loss of heterozygosity (LOH) to explain the origin of this unusual phenomenon. Homozygosity would explain why lesions in LP are far more pronounced than those of the associated heterozygous DSAP lesions.