暂无摘要。

Linear morphea, also known as linear scleroderma, is a localized form of scleroderma characterized by the presence of lesions that follow a linear distribution pattern. Apart from the typical inflammation and fibrosis of the skin, the linear subtype of morphea often affects underlying structures such as muscles and bones, which can lead to functional limitations. Lichen striatus, a linear inflammatory skin condition, primarily affects children aged 5 to 15 years. Interestingly, both diseases can exhibit lesions that follow the lines of Blaschko. Here we report a case with linear morphea following the lines of Blaschko mimicking lichen striatus in a 4-year-old child. This unique case represents the first documented instance of linear morphea exhibiting a precise Blaschko pattern and being successfully treated with baricitinib. The patient received oral baricitinib at a daily dosage of 2 mg for a duration of 1 year, resulting in remarkable improvement. The majority of the lesions softened, and there was no significant disease progression or occurrence of adverse events throughout the treatment period. Recognizing linear morphea at an early stage is of utmost importance in ensuring effective treatment and preventing disfiguring sequelae. Patients suspected of lichen striatus should also be closely followed and linear morphea should be excluded during the follow-up. The recent breakthrough in the application and the safety of baricitinib in scleroderma is also reviewed.

A boy with a 2-year history of asymptomatic, linear pigmented macules involving the right side of the trunk and right upper limb. RCM revealed the dermal papillary rings were destroyed, and numerous irregular particulate structures with high refractive values were distributed in the superficial dermis. The RCM features implied the possibility of interface dermatitis. RCM was a complementary diagnostic tool for linear pigmented macules.

Pityriasis rosea (PR) is a common papulosquamous disorder that may be related to primary infection or endogenous reactivation of human herpesvirus 7 and 6. Based on morphology, distribution, and size of lesions, several atypical variants of PR have been described. PR following the lines of Blaschko represents an atypical variant that has seldom been described in the literature. Here, we describe a child with diabetes who developed PR in a symmetrical, blaschkolinear configuration.

The patched tumor suppressor gene (PTCH1) encodes a receptor, which is a key component of the hedgehog signalling pathway. Mutations in PTCH1 are implicated in the development of sporadic basal cell carcinomas (BCC), as well as those in Gorlin Syndrome. Rarely, BCCs may develop in a linear pattern along lines of Blaschko due to cutaneous mosaicism. In cases in which there are other features of Gorlin syndrome, genomic analysis has demonstrated lesional mutations in the Hedgehog signalling pathway. Causative mutations, however, have not been firmly demonstrated in the cases of linear and segmental BCCs in otherwise healthy individuals. Herein, we report a case of a 31 year-old Caucasian woman with linear development of multiple superficial BCCs in a Blaschkoid distribution without other characteristic findings of Gorlin syndrome. Genomic analysis of lesional skin by whole-exome sequencing identified a novel heterozygous mutation PTCH1: NM_000264.3, Exon 15, c.2336-2337insGGTAGGA, p.Asp779Glufs*13 in PTCH1, shared by two discrete samples within the lesion, while no mutations were found in the non-lesional skin or peripheral blood. Given the young age of our patient and linear distribution of BCCs on non-sun exposed skin, our findings suggest segmental mosaicism. The patient was treated with topical 5% imiquimod with histologically confirmed clearance of BCCs in 2 months.

UNASSIGNED: Pathogenic mechanism that determines the localization of vitiligo patches and thus a patterned distribution in patients with nonsegmental vitiligo has remained poorly elucidated. A distributional similarity of the vitiligo patches with Blaschko\'s lines has been documented in patients with segmental vitiligo, both isolated segmental vitiligo and mixed vitiligo but never in cases of nonsegmental vitiligo.
UNASSIGNED: Distribution of nonsegmental vitiligo patches on face and neck regions was assessed and compared with Blaschko\'s lines and also with embryonic pigmentary segments on the face.
UNASSIGNED: This study has documented distributional similarity of the nonsegmental vitiligo patches on face and neck with Blaschko\'s lines and the \"embryonic pigmentary segments\" among 154 (58.6%) cases. Patches around the palpebral and other fissures like periorbital, perinasal, perioral, and periaural were more common. In addition to the vitiligo patches, the spared areas were also found to respect the embryonic segmental outlines and follow the Blaschko\'s lines.
UNASSIGNED: Distributional pattern of the individual nonsegmental vitiligo patches along the Blaschko\'s lines and embryonic pigmentary segments suggests that mosaicism might control the susceptibility to the disease process in a patterned manner.
UNASSIGNED: No genetic testing could be performed to confirm the hypothesis. Evaluation of nonsegmental vitiligo was done only on the face and neck areas.

暂无摘要。

Herein, we report the case of a 12-year-old female who noted the recent onset of an oval, circumscribed, 10-cm papillomatous plaque affecting the thigh and vulva that showed histologic signs of lymphedema without evidence of secondary lymphedema. The sequencing of genes associated with a delayed onset of lymphedema or epidermal nevi (EN) - GATA2 and GJC2, and HRAS and KRAS, respectively - showed wild-type alleles. Polymerase chain reaction for human papillomavirus (HPV) DNA demonstrated infections with 15 HPV genotypes. Evidence of productive HPV infection, HPV capsid expression, and cytopathic changes was detected. At the 6-month follow-up, no evidence of recurrence was found after complete excision. The analysis of a consecutive series of 91 EN excision specimens revealed that 76% exhibited histologic evidence of lymphostasis. Notably, multiple acrochordon-like EN, which most closely resembled this case, showed similar signs of localized lymphedema. The late onset and evidence of lymphedema favors the diagnosis of congenital unisegmental lymphedema. However, the clinical findings and epidermal changes point to the diagnosis of EN. Moreover, localized verrucosis also accurately describes this patient\'s cutaneous findings. Based on the above evidence, we postulate that an abnormal development of lymphatics may play a primary role in the pathogenesis of some types of EN and facilitate productive HPV infection.

We present a 6-week-old female infant from the Lao People\'s Democratic Republic with a large, red, exophytic scalp mass and numerous flesh-colored verrucous plaques on her face and the right half of her body since birth. The clinical and pathological findings are consistent with the new phenotype of the large, polypoid types of nevus sebaceous.

Incontinentia pigmenti is a rare, multisystem X-linked dominant genetic disorder caused by mutations in IKBKG, the encoding inhibitor of kappa light polypeptide gene enhancer in B-cells. Almost 80% of all cases result from a recurrent intragenic deletion mutation that removes exon 4-10. At present, this mutation can be detected by a multi-primer polymerase chain reaction (PCR) technique although current protocols may preferentially amplify the wild-type allele and miss the deletion. Here, we report a female infant with incontinentia pigmenti that also affected her mother and sister, and two spontaneously aborted male siblings. We developed a modified PCR amplification method that provides more robust detection of the exon 4-10 deletion mutation, which was demonstrated in all affected females in this pedigree.