Facial Milia Research Articles

Basan syndrome in a family from South India: a novel SMARCAD1 variant.

Basan syndrome is a rare ectodermal dysplasia, characterised by adermatoglyphia, mottled acral pigmentation and various nail abnormalities; in addition to transient neonatal findings of acral blistering and facial milia. The genetic basis was established recently as heterozygous mutations affecting the skin specific isoform of the SMARCAD1 gene. It is now considered to be part of the spectrum of disorders resulting from haploinsufficiency of this isoform, which also includes Huriez syndrome and autosomal dominant adermatoglyphia. Here, we describe a family with Basan syndrome from South-India with a novel SMARCAD1 variant [SMARCAD1: c.-10 + 4_-10 + 7del] affecting the known mutational hotspot in non-coding exon 1.

Włosy skręcone i mnogie prosaki twarzy jako wyraz dysplazji ektodermalnej u bliźniaczek monozygotycznych

Włosy skręcone i mnogie prosaki twarzy jako wyraz dysplazji ektodermalnej u bliźniaczek monozygotycznych

Prevalence of actinic skin lesions in patients with basal cell carcinoma of the head: a case-control study

To evaluate the prevalence of actinic skin lesions in patients with basal cell carcinoma of the head. A case-control study was carried out. Cases were patients with primary, solid basal cell carcinoma of the head, less than two centimeters in diameter; and as controls, patients with other dermatoses. Constitutional and behavioral variables were analyzed, as well as actinic lesions. One hundred twenty cases and 360 controls were evaluated. Facial milia (OR = 2.3), leukoderma punctata of the upper limbs (OR = 2.9), and cutis rhomboidalis nuchae (OR = 1.8) were associated with neoplasms regardless of other variables, suggesting a risk phenotype. There was also association with light hair and eye color phenotypes, family genetics, and cumulative sun exposure. Sunburn, smoking, and alcoholism were not identified as risk factors. The use of sunscreens showed no evidence of protection; however, the control group consisted of dermatology patients who are often prescribed sunscreens. Actinic lesions were more prevalent in patients with solid basal cell carcinoma of the head than in controls, especially milia, cutis rhomboidalis nuchae, and leukoderma punctata, regardless of other known risk factors.

Prevalência de lesões cutâneas actínicas em pacientes com carcinoma basocelular do segmento cefálico: um estudo caso-controle

Avaliar a prevalência de lesões cutâneas actínicas em portadores de carcinoma basocelular do segmento cefálico. Foi conduzido estudo tipo caso-controle. Os casos, constituídos por pacientes com carcinoma basocelular sólido, primário, menor que dois centímetros, no segmento cefálico; e controles, por pacientes com outras dermatoses. Foram analisadas variáveis constitucionais, comportamentais e lesões actínicas. Avaliaram-se 120 casos e 360 controles. Mílio facial (OR = 2,3), leucodermia puntacta de membros superiores (OR = 2,9) e cutis romboidalis nuchae (OR = 1,8) associaram-se à neoplasia independentemente das demais variáveis, sugerindo um fenótipo de risco. Houve ainda associação com fenótipos claros, genética familiar e exposição solar cumulativa. Queimadura solar, tabagismo e alcoolismo não foram identificados como fatores de risco. O uso de fotoprotetores não evidenciou proteção; porém, o grupo controle era composto por pacientes dermatológicos, aos quais são indicados fotoprotetores regularmente. Lesões actínicas foram mais prevalentes em portadores de carcinoma basocelular sólido do segmento cefálico que em controles, especialmente mílio, cutis romboidalis nuchae e leucodermia puntacta, independentemente dos demais fatores de risco conhecidos. To evaluate the prevalence of actinic skin lesions in patients with basal cell carcinoma of the head. A case-control study was carried out. Cases were patients with primary, solid basal cell carcinoma of the head, less than two centimeters in diameter; and as controls, patients with other dermatoses. Constitutional and behavioral variables were analyzed, as well as actinic lesions. One hundred twenty cases and 360 controls were evaluated. Facial milia (OR = 2.3), leukoderma punctata of the upper limbs (OR = 2.9), and cutis rhomboidalis nuchae (OR = 1.8) were associated with neoplasms regardless of other variables, suggesting a risk phenotype. There was also association with light hair and eye color phenotypes, family genetics, and cumulative sun exposure. Sunburn, smoking, and alcoholism were not identified as risk factors. The use of sunscreens showed no evidence of protection; however, the control group consisted of dermatology patients who are often prescribed sunscreens. Actinic lesions were more prevalent in patients with solid basal cell carcinoma of the head than in controls, especially milia, cutis rhomboidalis nuchae , and leukoderma punctata, regardless of other known risk factors.

Bilateral Conjunctival Nodules in Sweet’s Syndrome

The authors report a case with bilateral conjunctival nodules in Sweet's syndrome. The patient was a 47-year-old Chinese male, who fulfilled the diagnostic criteria of Sweet's syndrome. Fever as well as erythematous papules and blains on his face and arms resolved completely after administration of oral prednisolone. However, he developed secondary facial milia and painless nodules in bilateral eyes. Two well demarcated conjunctival nodules with hyperemia were found, one in the temporal aspect of the right eye and the other in the nasal aspect of the left eye. Excision biopsy of the right eye's lesion showed neutrophilic infiltration without vasculitis, the same histopathologic feature of Sweet's syndrome. The one in the left eye was responsive to local corticosteroids. To our knowledge, this is the first reported case of bilateral conjunctival nodules in Sweet's syndrome.

Reevaluation of a kindred with congenital absence of dermal ridges, syndactyly, and facial milia

We observed a newborn infant of a previously reported kindred with absent dermal ridge pattern, syndactyly, and facial milia. The infant's features were consistent with three other kindreds, suggesting that this entity is a single disorder with variable expression. Furthermore, this entity should be considered in the differential diagnosis of excessive congenital facial milia and erosions.