A Filipino male with encephalocraniocutaneous lipomatosis (Haberland's syndrome).

BACKGROUND: Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland's Syndrome, is a sporadically occurring neurocutaneous syndrome with no gender or race predilection. ECCL patients present with a broad spectrum of clinical manifestations, often in a unilateral distribution. The hallmark of ECCL is the nevus psiloliparus, a soft, bulging, lipomatous scalp lesion, with associated alopecia. MAIN OBSERVATIONS: We describe a case of a 2-month-old Filipino male with a soft, ill-defined mass with associated alopecia on the fronto-parietal scalp. Biopsy revealed findings consistent with a nevus psiloliparus. The patient also presented with a lipomatous nodule on the right temple, as well as choristomas and a coloboma on the right eye. He had no history of seizures and development was at par with age. CONCLUSION: Recognition of ECCL is important in order to work-up the patient for concomitant problems, such as central nervous system and cardiac anomalies, and employ a multidisciplinary approach in the management of these patients.

Erythema multiforme in a 25-day old neonate.

Erythema multiforme is an acute, self-limiting, mucocutaneous hypersensitivity reaction characterized by distinctive target lesions. Most cases have been attributed to infection. Erythema multiforme occurs mainly in young adults and is extremely rare during the neonatal period. We report a 25-day-old girl who presented with target skin lesions on both the palms and soles with no other associated symptoms. She had no remarkable maternal, birth, or past medical history. Complete blood count, urinalysis, chest radiography, and herpes simplex virus 1 and 2 immunoglobulin G (IgG) titers revealed no abnormalities. Pathologic examination showed vacuolar interface change and dyskeratotic cells in the epidermis consistent with erythema multiforme. This unusual case emphasizes the importance of recognizing diagnostic clues in examining patients. Even in the presence of uncharacteristic factors, the typical target lesions of erythema multiforme are distinctive.

Ichthyosis bullosa of Siemens.

BACKGROUND: Ichthyosis bullosa of Siemens (IBS) is a rare hyperkeratotic blistering condition caused by mutations in keratin 2e gene. MAIN OBSERVATIONS: This is a case of a 18-year-old female with generalized blisters, erosions and thickened skin since she was 3 months old. As she aged, there was decrease in development of blisters and erosions, with accompanying increase in severity of hyperkeratosis. Skin punch biopsy showed overlying basket weave hyperkeratosis and acanthosis, prominent vacuolization of the granular cell layer, and intraepidermal blisters with the split at the granular layer. The patient was treated with emollients, with marked improvement. CONCLUSIONS: Mutations in the different keratin genes have been shown to underlie a wide range of disorders of keratinization. Epidermolytic hyperkeratosis and ichthyosis bullosa of Siemens are distinct disorders with mutations in different genes. Although molecular genetic testing should ideally be done for confirmation of diagnosis, ichthyosis bullosa of Siemens could be diagnosed in this patients based on key clinical characteristics.

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. Three were microdeletions eliminating PORCN and encompassing neighboring genes such as EBP, the gene associated with Conradi-Hünermann-Happle syndrome (CDPX2). 12/24 patients carried nonsense mutations resulting in loss of function. In one case a canonical splice acceptor site was mutated, and 8 missense mutations exchanged highly conserved amino acids. FDH patients overcome the consequences of potentially lethal X-chromosomal mutations by extreme skewing of X-chromosome inactivation in females, enabling transmission of the trait in families, or by postzygotic mosaicism both in male and female individuals. Molecular characterization of the PORCN mutations in cases diagnosed as Goltz syndrome is particularly relevant for genetic counseling of patients and their families since no functional diagnostic test is available and carriers of the mutation might otherwise be overlooked due to considerable phenotypic variability associated with the mosaic status.