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Frozen sections to diagnose epidermolytic ichthyosis: Very cool!


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By Warren R. Heymann, MD
May 30, 2016

Is there anything more daunting than being called to the neonatal unit confronted by a desquamating, peeling, neonate? The differential diagnosis is broad, ranging from Staphylococcal Scalded Skin Syndrome (SSSS), Toxic Epidermal Necrolysis (TEN), Epdermolysis Bullosa, Bullous Congenital Ichthyosiform Erythroderma (Epidermolytic Hyperkeratosis, Epidermolytic Ichthyosis), Ichthyosis Bullosa of Siemens, Congenital Candidiasis, and Herpes Simplex.

Galler et al were consulted to see a newborn Hispanic girl with widespread, ruptured vesicles and bullae distributed on the face, chest, back, and extremities. The parents declined a skin biopsy, but permitted them to perform a frozen section, utilizing the “jelly roll” technique (sloughed skin wrapped around a cotton tipped applicator). The roof of the blister demonstrated hyperkeratosis with degeneration and vacuolization of the granular layer, confirming the diagnosis of epidermolytic hyperkeratosis (1)

As time is of the essence in the neonatal unit, this technique has two main advantages — speed and essentially being an atraumatic procedure.

Amon and Dimond were the first to report the use of frozen sections to differentiate between SSSS and TEN (2). I have used this technique on several occasions. Fortunately, we have a pathology department that is been willing and able to help. This brief report expands the indication for using it beyond the realm of SSSS versus TEN. When confronted with the neonatal bullous differential noted above, I have no doubt that I will be summoning the pathologist’s assistance again.

1. Galler B, et al. Use of frozen section “jelly roll” technique to aid in the diagnosis of bullous congenital ichtyosiform erythroderma (epidermolytic hyperkeratosis). J Cutan Pathol 2016; 43: 434-7.
2. Amon RB, Dimond RL. Toxic epidermal necrolysis. Rapid differentiation between staphylococcal and drug-induced disease. Arch Dermatol 1975; 111: 1433-7.


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