Erythematosquamous Skin Lesions in Hereditary Lactate Dehydrogenase M-Subunit Deficiency

Abstract

Peculiar erythematosquamous lesions were observed in two adult patients in Japan with hereditary lactate dehydrogenase M-subunit deficiency. Although these patients showed excessive fatigue and myoglobulinuria after extended exercise, they were usually asymptomatic. However, nonpruritic follicular papules or erythematous patches with scaly edges were present on the extensor surfaces of the extremities of these patients since childhood, showing some improvement after puberty. There were also erythematous patches on the weight-bearing areas of their soles. These patches showed exacerbation and a tendency toward peripheral spreading in summer. These skin lesions provide an important clue in the detection of this genetic enzyme deficiency.

Physical therapy–induced rhabdomyolysis and acute kidney injury associated with reduced activity of muscle lactate dehydrogenase A

“…However, her muscle symptoms began at a later stage of life than that in the reported cases (5)(6)(7)(8), which might reflect the heterogeneity in clinical presentations associated with this condition. Some patients with confirmed homozygous LDH-A mutations display minimum muscle symptoms (12)(13)(14). Alternatively, without gene sequence information, we cannot rule out the possibilities of a heterozygous state or acquired condition.…”

Annually recurring erythema annulare centrifugum: A distinct entity?

“…Recurrent erythematous scaling lesions have been reported in association with hereditary LDH M-subunit deficiency. 2,6,7 This disorder was originally described by Yoshikuni et al 2 as an annular erythematous eruption with a characteristic exacerbation in summer and a constant spontaneous resolution in autumn, associated with muscular symptoms. Histologic features were hyperkeratosis, focal parakeratosis, and moderate acanthosis in the epidermis and a mild perivascular lymphocytic infiltrate in the papillary and middermis.…”

“…1 This peculiar variant of annually recurring (AR) EAC received little attention in the literature, and only isolated reports in the European literature 1 were published afterward. In 1986, Yoshikuni et al, 2 pointed out the possible association between AR EAC and hereditary lactate dehydrogenase (LDH) M-subunit deficiency.…”

Lactate dehydrogenase M-subunit deficiencies: Clinical features, metabolic background, and genetic heterogeneities

“…Hyperkeratosis, hypergranulosis, partial vacuolation of the basal layer, and mild intercellular edema with infiltrated mononuclear cells were observed. 25 Clinical features of patients with lactate dehydrogenase deficiency are summarized in Table 2. The M subunit is abundant in the liver, skeletal muscles, skin, and uterus.…”

“…Moreover, typical skin lesions were reported in 1 atient. 25 Subsequently, two families, one Japaneser2 and one I talian,' were found to have this typical skin eruption.…”