Herlitz Junctional Epidermolysis Bullosa Presenting at Birth with Anonychia: A Case Report and Review of H‐JEB

Abstract

A 15-day-old Yemeni boy presented with anonychia and granulomatous nail beds and white patches in the mouth. Biopsy specimens from the nail beds were nondiagnostic. Shortly thereafter the child developed multiple tense bullae, a hoarse voice, and poor appetite. Hematoxylin and eosin staining along with monoclonal antibody studies of a skin biopsy specimen revealed subepidermal bullae through the lamina lucida and a marked decrease in laminin 5. A diagnosis of junctional epidermolysis bullosa Herlitz variant was made. His course was complicated by multiple nonhealing wounds, oral pharyngeal involvement, sepsis, anemia, and poor nutrition, leading to his eventual death. This report emphasizes the unusual presentation of Herlitz junctional epidermolysis bullosa with anonychia as the initial finding and a relatively prolonged period before cutaneous blister formation, resulting in delay of diagnosis.

Nail manifestations of some important genetic disorders in children

“…The nail changes in this condition usually appear soon after birth as paronychial inflammation followed by nail loss due to extensive acral blistering, particularly around the nails (Fig. 7) and feet, with subsequent development of heaped up granulation tissue (39). Plaques of exuberant granulation tissue develop in the nail bed and proximal nail fold areas and may cover most of the dorsal tip of the digit (38).…”

“…However, cases occur in which the only cutaneous features at birth are anonychia and erythema of the nail bed area involving several digits of the hands (Fig. 7) and feet, with subsequent development of heaped up granulation tissue (39). As cutaneous blistering elsewhere, mucosal erosions, and the characteristic hoarseness due to laryngeal involvement may be delayed for days or weeks in these rare cases, it is important to consider the diagnosis of JEB in a child presenting with anonychia accompanied by signs of inflammation of the nail beds.…”

Total Congenital Anonychia

“…A case of anonychia due to prenatal phenytoin exposure was reported . Anonychia can also be a presenting sign of junctional epidermolysis bullosa before blister formation . Conditions such as Stevens–Johnson syndrome, lichen planus, and severe trauma can cause acquired anonychia , but congenital simple anonychia without additional features seems rare .…”

Bullous Dermatoses in Childhood: Part II

“…Epidermolysis bullosa encompasses a group of genetic diseases of unknown etiology, characterized by the formation of spontaneous or traumatic bullae 4,15,30 . It can be subdivided into 3 major groups that are more clearly defined by electronic microscopy and immunohistochemical studies 30,31 . The severity of the disease depends much more on the depth of the cutaneous cleavage than on the extension and number of lesions.…”

“…The bulla is located in the basal cells of the plasmatic membrane and basal membrane (lucid lamina). It encompasses clinical forms that range from fatal, as in the Herlitz variant, to benign, as in the atrophic generalized form 31,32 …”