Zellweger syndrome (ZS) is a rare autosomal recessive, peroxisomal biogenesis disorder (PBD) that occurs due to a mutation in any of the thirteen peroxin (PEX) genes. It is reported to manifest with varying degrees of severity, ranging from non-specific gastrointestinal abnormalities, nail and enamel defects to multisystem involvement (cerebro-hepato-renal syndrome, eye, ear, and neurological abnormalities). Uncombable hair syndrome (UHS) is a rare hair shaft disorder characterized by dry, frizzy, unmanageable hair. Diagnosis of UHS can be confirmed by scanning electron microscopy (SEM), which reveals a triangular cross-section of the hair. We report a case of UHS with a hitherto unreported association of ZS (due to a homozygous mutation of PEX 12).

Uncombable hair syndrome is a hair shaft condition in which the hair is frizzy, light in color (silver to light brown), and cannot be combed flat. Autosomal dominant (with complete or incomplete penetrance), autosomal recessive, and sporadic cases have been reported. In 2016 causative mutations in three genes were identified for uncombable hair syndrome, all with an autosomal recessive inheritance pattern: PADI3, TGM3, and TCHH. In many cases, however, there is still no molecular diagnosis. Here, we describe a case of autosomal recessive uncombable hair syndrome resulting from maternal uniparental disomy of chromosome 1.

Uncombable hair syndrome is a rare disorder of the hair shaft that leads to silvery and unruly hair. The hair shaft anomaly is characterized by a longitudinal groove that is detected by scanning electronic microscopy-considered to be the gold standard for diagnosis. Recently, hair cross-sectioning has been reported as a viable alternative, but currently available methods still have some flaws, especially because of hair samples\' processing specificities. Here, we present two cases of uncombable hair syndrome and a new embedding technique using epoxy to perform the diagnosis.

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Uncombable hair syndrome (UHS) is a unique hair shaft disease characterized by frizzy, straw-colored hair, which is resistant to combing and brushing. Familial cases have been described, and recently mutations in genes related to trichohyalin production have been reported as the cause for this condition. UHS usually manifests during early childhood, and gradually resolves at puberty. Herein, we report on a 2-year-old boy whose hair changed to a UHS-like phenotype \"overnight\" with no apparent trigger. The condition resolved abruptly after 9 months. Genetic analysis revealed a heterozygous variant in the PLCD1 gene, which has been connected to hair development. This case raises the possibility that a genetic cause can lead to a temporary change in hair shaft appearance, possibly after exposure to a yet unknown external trigger.

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