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We report the case of a 5-year-old girl with congenital right-sided facial hemihypertrophy and right hemi-macroglossia with lingual mucosal neuromas. The segmental presentation of findings suggested the diagnosis of congenital infiltrating lipomatosis of the face (CILF), which belongs within the PIK3CA-related overgrowth spectrum (PROS). This was confirmed by genetic analysis showing a mosaic mutation in PIK3CA H1047R. CILF/PROS should be considered in the differential diagnosis of mucosal neuromas.

We report a case of transient neonatal cutis laxa and hypertrichosis lanuginosa as an initial presentation in Sotos syndrome. Little is known about skin involvement in Sotos syndrome. Our observation highlights that Sotos syndrome is a rare cause of cutis laxa and suggests that it is a useful neonatal skin clue to the diagnosis of overgrowth syndromes.

We report dermoscopic characteristics of cutaneous capillary malformations in four patients with capillary malformation-arteriovenous malformation (CM-AVM) syndrome. We observed a mixed vascular and pigmentary pattern with branched linear vessels and an underlying homogeneous brown background. Disappearance of the vascular pattern on pressure revealed an underlying faint pigmentary reticular pattern. Our results suggest that this typical biphasic pattern on dermoscopy may be useful for the diagnosis of CM-AVM syndrome.

Glomuvenous malformations are hereditary vascular anomalies, usually without extracutaneous involvement. We report two cases of extensive thoracic plaque-type glomuvenous malformation in newborns who had previously been diagnosed in utero with pleural effusion and ascites, suggesting a pathogenic link between the two conditions.

Glomuvenous malformations are hereditary vascular anomalies, usually without extracutaneous involvement. We report two cases of extensive thoracic plaque-type glomuvenous malformation in newborns who had previously been diagnosed in utero with pleural effusion and ascites, suggesting a pathogenic link between the two conditions.

Seven patients with bi-acromial dimples are reported, with a family history in only one. This skin condition presented as an anatomic peculiarity without associated abnormalities. Although it has been previously documented as a finding in malformation syndromes such as the 18q syndrome, we point out that it may be found quite frequently in isolation and without morbidity. Therefore, it should be mainly considered as an anatomic variation without pathologic significance.

Late cutaneous signs of incontinentia pigmenti (IP) are often subtle and misdiagnosed. We focus on these somewhat confusing clinical markers in a family, and on the genotypic diagnosis based on DNA analysis. An infant was born with a typical IP rash. Dermatologic examination of the women In her family revealed that her mother, her maternal aunt, and her grandmother had subtle skin signs reminiscent of IP. The four family members proved to be Informative for DNA markers in the Xq28 region. Familial cases of IP are sometimes missed due to the lack of recognition of some late skin signs that are not always hyperpigmented streaks. Subtle, faint, hypochromic or atrophic lesions in a linear pattern may occur. Thus an accurate diagnosis of the women in a particular family also requires anamnestic data and recognition of extracutaneous anomalies. When a clinical diagnosis has been made, DNA marker analysis allows us to offer a prenatal diagnosis with minimal risk of error In case of further pregnancy. However, early testing of chorionic villus samples does not allow one to predict the severity of the disease in an affected fetus.