Phacomatosis pigmentokeratotica

Abstract

Anthony Babington was 24 and a company commander in the 1st Dorset Regiment when he was wounded by shrapnel in Holland early in the morning of 2 November 1944, in the aftermath of the Arnhem campaign. His story is in his own writings 1,2 and in his army medical records 3 , both quite exceptional in detail and perception. CASE HISTORY He was felled by the shell burst and briefly unconscious, and had sustained a left parietal penetrating injury which made him mute and hemiplegic. He was evacuated by stretcher, ambulance and plane. 'During the flight I felt something stiff and cold on the right side of my chest. I puzzled about it for a while before it dawned on me that it was my right arm, heavy, insensate and quite paralysed. .. At one point I thought the end had come. . .' 2. On the evening of the same day he reached the Military Hospital for Head Injuries at St Hugh's College, Oxford. X-rays showed 'a large MFB [metal foreign body] deep in the left parietal lobe just above the ventricular roof but may impinge on it.' On 3 November Major C A Calvert 4 operated on a semiconscious, globally aphasic man who had a right hemiplegia, hemianaesthesia, and hemianopia (Figure 1): '.. . wound stank horribly. .. contamination with hairs and dura down brain track-marked oedema. .. toothpaste brain and clot. .. bone chips indrawn about 2 cm, metallic body about 4 cm from cortex, inner end about 6 cm. .. debrided. .. many toothpaste pockets extending laterally from track. .. area of cortex destruction about 4 cmÂ4 cm. .. gush of CSF. .. ventricle into which MFB had protruded. .. 5000 U penicillin. .. dura left open. .. drain. . .' 3. After the operation Anthony Babington recalled 1,2 gesticulating with his left hand to indicate that he needed treatment for head pain, something to drink, or a urine bottle. When asked to write his home address with his left hand 'I knew exactly what I intended to write but I was dismayed to find myself drawing a series of short and very crooked lines. .. when shown a newspaper I could see letters but not understand them. .. might have been Chinese. 'I woke one morning feeling slightly better. The night sister said ''You are over the worst and out of danger. .. The doctors think you might get back a little movement in your right side, in the leg at any rate. But I am afraid they think it unlikely that you will ever be able to speak again''.'

Two Distinct Types of Speckled Lentiginous Nevi Characterized by Macular versus Papular Speckles

“…No malignant melanoma was described in papular SLN with blue nevi. Moreover, multiple Spitz nevi may develop on papular SLN [8, 56, 57, 64, 65, 67, 71]. In 1 case, superimposed Spitz nevi emerged during pregnancy [48].…”

“…Papular SLN may occur as an isolated lesion [1, 4, 5, 8, 13, 14, 43, 46, 49] or as a component of phacomatosis pigmentokeratotica [1,27,28,29,30,31,32, 50, 51,55,56,57]or of SLN syndrome (table 4) [33]. Phacomatosis pigmentokeratotica has been proposed to represent an example of didymosis (twin spotting) [26].…”

Phacomatosis pigmentokeratotica or the Schimmelpenning‐Feuerstein‐Mims syndrome?

“…On the skin, it is manifested as a combination of the linear nevus sebaceous and the speckled lentiginous nevus, also known as nevus spilus. Other associated features reported in patients with phacomatosis pigmentokeratotica most commonly included skeletal or neurological abnormalities .…”

Phacomatosis pigmentokeratotica associated with compound melanocytic nevus of the conjunctiva

“…Other ophthalmologic assessments were normal. Other abnormalities, including rhabdomyosarcoma, 5 pheochromocytoma, 14 renal artery stenosis, 22 aortic stenosis, 19 arterial hypertension 19,22 , and hypophosphatemic rickets 4,14 have also been reported in PPK, but PPK is known to sometimes occur without systemic involvement 3,23,24,29 …”

“…Musculoskele‐tal manifestations include hemiatrophy, 4,11,20 hemihypertrophy, 5 leg hypertrophy, 21 scoliosis/kyphosis/deviation of posture, 4,9,10,17,22 deviation of the spine, 23 and muscular weakness 17,20 . Neurologic manifestations include developmental delay, 4,24 intellectual deficit, 4,11 retarded cerebral maturation, 12 nerve palsy, 4,17,20 paresis, 24,25 hearing loss, 4,20,26 seizures, 24,26 hyperhidrosis, 4,11,21,27 dysesthesia, 4,11,21 suprasellar dermoid cyst, 21 arachnoid cyst, 22 and spinal root tumors 22 . Ophthalmologic manifestations include congenital glaucoma, 4 ptosis, 20 strabismus, 20 microphthalmia, 22 corneal dermoid, 28 nevus, 9,21 and visual impairment 26 .…”