Co-existence of atypical tuberculid with lupus vulgaris.

Cutaneous tuberculosis (CTB) is an uncommon form of extra-pulmonary tuberculosis accounting for ≤2% of mycobacterium tuberculosis cases and is more often reported from developing countries. Tuberculid, a cutaneous hypersensitivity reaction to mycobacteria or its fragments, is a another rare cutaneous manifestation seen in association with tuberculosis of other organ systems including tuberculous lymphadenitis, pulmonary tuberculosis, etc. Co-occurrence of a tuberculid with CTB is extremely rare. Herein we report a childhood case of lupus vulgaris, a type of CTB, associated with an atypical presentation of tuberculid.

CEDNIK syndrome with phenotypic variability.

CEDNIK syndrome is a rare autosomal recessive syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma of which 25 cases from 19 families have been reported to date. It is a progressive neurodegenerative disorder caused by the loss-of-function pathogenic variant of the SNAP29 gene encoding a member of the SNARE family of proteins. We describe two female siblings from a Syrian parent-related family with CEDNIK syndrome due to homozygous pathogenic variant in SNAP29 [c.223delG(p.Val75Serf*28)]. Palmoplantar keratoderma, reported as a cardinal sign in CEDNIK syndrome, was absent in both patients as of the last follow-up, and one of our patients had a verrucous venous malformation, a finding that has not been previously reported.