High-fluence 1064nm Q-switched Nd:YAG laser treatment for ectopic Mongolian spot.

Q-switched neodymium-yttrium aluminum-garnet (Q-switched Nd:YAG) laser has been reported as an effective treatment for nevus of Ota and acquired bilateral nevus of Ota-like macules (ABNOM). Data on ectopic Mongolian spots have rarely been reported.The present study was performed to investigate the treatment efficacy of a high-fluence 1064 nm Q-switched Nd:YAG laser without tissue whitening in ectopic Mongolian spots.We included 61 patients with ectopic Mongolian spots, and 70 lesions were examined. Thirty-three lesions were treated with a high-fluence 1064 nm Q-switched Nd:YAG laser, and 38 lesions were observed without treatment. The results were assessed using a 5-quantile grading scale and melanin index using a Mexameter®.Mean follow-up duration was 14.1 ± 6.8 months for the treatment group and 17.8 ± 10.0 months for the observation group. Mean 5-quintile grading scale at final follow-up was statistically different (p < 0.001) between the two groups (treatment: 2.85 ± 1.00, observation: 0.49 ± 0.73). There was a significant difference (p < 0.001) in the Δ melanin index (initial melanin index - final melanin index) between the observation (7.1 ± 62.7) and treatment (156.7 ± 78.4) groups.High-fluence Q-switched Nd:YAG laser without tissue whitening showed good results and was well-tolerated in treating ectopic Mongolian spots.

A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome.

Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare genetic disorder caused by mutations in the MBTPS2 gene. It is characterized by ichthyosis and alopecia from birth. Photophobia may be present in infancy or early childhood. Its mode of inheritance is X-linked recessive; thus, it mostly affects male. The disease severity varies, ranging from mild cases limited to the skin to the severe variant involving multiple extracutaneous features. A 7-year-old boy presented with scanty hair on scalp and eyebrows at birth. On physical examination, scaly patches were observed on the whole body and spiky follicular hyperkeratotic papules were observed on the face and trunk. He also suffered from severe photophobia. Histopathological examination of the scalp showed miniaturized hair follicles without perifollicular fibrosis. Genetic analysis revealed a novel mutation in the MBTPS2 gene which was a homozygous missense mutation of c.245T>C leading to an amino-acid substitution from phenylalanine to serine (p.Phe82Ser). We diagnosed this patient with IFAP syndrome. To date, 25 pathogenic MBTPS2 gene mutations have been identified. To our knowledge, c.245T>C is a novel homozygous missense mutation in the MBTPS2 gene, which has not been reported in Human Gene Mutation Database, ClinVar Database, and Leiden Open Variation Database. Previous reports suggested genotype-phenotype correlations in the MBTPS2 gene mutations. Supported by a previous notion that genotype correlates with phenotype, this novel mutation can be a predictive factor for the mild form of IFAP syndrome, restricted to the classic symptom triad.

Onychophagia: detailed clinical characteristics.

BACKGROUND: Onychophagia is a common disorder affecting 20% to 30% of the general population. It is defined as habitual nail biting and can cause various changes in the nail units. However, to date, there has been a paucity of data focusing on nail deformities related to onychophagia. This study was performed to investigate the clinical characteristics of onychophagia in Korea. METHODS: This study included 53 patients with onychophagia who visited the Pusan National University Hospital (Busan and Yangsan) over a 10-year period (2011-2020). We retrospectively reviewed medical records and clinical and dermoscopic photographs. RESULTS: All 10 fingernails were affected in 37.7% of the patients. The left thumbnail was the most predominantly affected site (81.1%). Clinical findings showed that short nails with ragged distal borders were the most common presentation (100.0%), followed by generalized or patchy rough areas (50.9%), linear and pinpoint hemorrhage (32.1%), longitudinal melanonychia (30.2%), transverse groove (28.3%), brittleness (28.3%), macrolunula (24.5%), washboard nail (13.2%), and pterygium (3.8%). Of the patients, 88.7% had periungual complications, such as periungual exfoliation (77.4%), absent or ragged cuticle (52.8%), hyponychial hyperkeratosis (37.7%), and paronychia (15.1%). CONCLUSIONS: Although onychophagia is a common disorder, its clinical characteristics have not been reported in the literature. The results of this study may be helpful in managing patients with onychophagia.

Comparison of Dermoscopic Features Between Melanoacanthomas and Melanoacanthoma-Like Malignant Melanomas in Korean Patients.

BACKGROUND: A melanoacanthoma (MA) is a pigmented variant of seborrheic keratosis. Owing to the pigmentation, MAs may mimic the clinical appearance of malignant melanomas (MMs). However, the dermoscopic patterns of MAs and MA-like MMs have rarely been compared. OBJECTIVE: To elucidate the clinical and dermoscopic differences between MAs and MA-like MMs. METHODS: This study included 77 MA and 33 MA-like MM patients. We retrospectively reviewed the medical records, clinical findings, and dermoscopic findings of the two groups. RESULTS: Crypts and comedo-like openings (71.4%) in MAs and the blue-white veil (60.6%) in MMs were the most common dermoscopic findings. Crypts, comedo-like opening, milia-like cysts, fissures, and hairpin vessels appeared more frequently in MAs (P < .05). However, atypical pigment networks, blue-white veils, pseudopods and streaks, and atypical vessels were more common in MMs (P < .05). MAs often showed melanoma-specific dermoscopic findings, especially blue-white veils (22.1%). Furthermore, fissures (42.4%), crypts (21.2%), and comedo-like openings (15.2%) were observed in MMs, although they are typically benign patterns. CONCLUSION: Differences in dermoscopic patterns might provide important clues for the differential diagnosis of MA-like lesions. However, MAs such as MMs and true-benign MAs may overlap clinically in appearance and on dermoscopy. Several benign patterns were frequently observed in MMs (fissures, globular pattern, crypts, comedo-like openings, cerebriform appearance, and milia-like cysts), and several malignant patterns were observed in MAs (blue-white veil, pseudopod, and atypical pigment network). Importantly, if any of the melanoma-associated features or atypical vessels are present, the lesion should be biopsied to establish a diagnosis.

Clinical differences between segmental nevus depigmentosus and segmental vitiligo.

Segmental nevus depigmentosus and segmental vitiligo can be difficult to differentiate from each other. Differential diagnosis of these two diseases is important because they have significantly different prognoses and psychological effects. The purpose of this study is to identify clinical clues that may be helpful in differentiating these two diseases. We enrolled 63 patients with segmental nevus depigmentosus and 149 patients with segmental vitiligo. Sex, age of onset, sites involved, dermatomal distribution, margin of lesion and presence of poliosis were evaluated in both groups. The age of onset was less than 10 years in 96.8% of segmental nevus depigmentosus and 28.9% of segmental vitiligo cases. Trunk (36.5%) and cervical (38.1%) dermatomes were the most commonly involved in segmental nevus depigmentosus and face (67.1%) and trigeminal (64.4%) dermatomes in segmental vitiligo. The average number of dermatomes involved in truncal lesions was different in segmental nevus depigmentosus and segmental vitiligo (2.71 vs 1.62, P = 0.001). Segmental vitiligo on the face, neck and trunk appeared closer to the axis than segmental nevus depigmentosus (P < 0.001). Segmental nevus depigmentosus and segmental vitiligo showed significantly different margins (90.5% and 41.6% serrated, respectively; P < 0.001). We observed clinical differences between patients with segmental nevus depigmentosus and those with segmental vitiligo. Distribution (site, distance to axis, dermatome), vertical width, margin of lesion and presence of poliosis can be helpful in differentiating segmental nevus depigmentosus and segmental vitiligo.